| - GRCh37:
- Chr5:155771592
- GRCh38:
- Chr5:156344582
| SGCD | R33*, R32* | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2F | Pathogenic
(Oct 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156186289
- GRCh38:
- Chr5:156759278
| SGCD | T253K, T254K | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Uncertain significance
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156184632
- GRCh38:
- Chr5:156757621
| SGCD | K205E, K206E | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Uncertain significance
(Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156074482
- GRCh38:
- Chr5:156647472
| SGCD | G170S, G171S | not provided, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156022011
- GRCh38:
- Chr5:156595001
| SGCD | S151F, S150F | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Sep 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156191336
- GRCh38:
- Chr5:156764325
| SGCD | | Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156189215
- GRCh38:
- Chr5:156762204
| SGCD | | Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Uncertain significance
(Oct 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156189198
- GRCh38:
- Chr5:156762187
| SGCD | | Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Uncertain significance
(Sep 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156187448
- GRCh38:
- Chr5:156760437
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Qualitative or quantitative defects of delta-sarcoglycan
| Uncertain significance
(Oct 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156193967
- GRCh38:
- Chr5:156766956
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Qualitative or quantitative defects of delta-sarcoglycan
| Uncertain significance
(Aug 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156192587
- GRCh38:
- Chr5:156765576
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
| Uncertain significance
(Sep 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156192528
- GRCh38:
- Chr5:156765517
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
| Uncertain significance
(Aug 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156192285
- GRCh38:
- Chr5:156765274
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
| Uncertain significance
(Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156194757
- GRCh38:
- Chr5:156767746
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
| Uncertain significance
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156192220
- GRCh38:
- Chr5:156765209
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
| Uncertain significance
(Sep 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156188540
- GRCh38:
- Chr5:156761529
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
| Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156188391
- GRCh38:
- Chr5:156761380
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
| Uncertain significance
(Aug 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156188308
- GRCh38:
- Chr5:156761297
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
| Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156188307
- GRCh38:
- Chr5:156761296
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
| Uncertain significance
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156186841
- GRCh38:
- Chr5:156759830
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
| Uncertain significance
(Nov 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156193065
- GRCh38:
- Chr5:156766054
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
| Uncertain significance
(Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156192919
- GRCh38:
- Chr5:156765908
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
| Uncertain significance
(Jul 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156189981
- GRCh38:
- Chr5:156762970
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
| Uncertain significance
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155935710
- GRCh38:
- Chr5:156508700
| SGCD | P97S, P98S | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Inborn genetic diseases | Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155771520
- GRCh38:
- Chr5:156344510
| SGCD | H8Y, H9Y | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, Primary familial dilated cardiomyopathy
| Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155771586
- GRCh38:
- Chr5:156344576
| SGCD | R30W, R31W | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
not provided | Uncertain significance
(Aug 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156184609
- GRCh38:
- Chr5:156757598
| SGCD | R198Q, R197Q | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156186300
- GRCh38:
- Chr5:156759289
| SGCD | Q258*, Q257* | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(May 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156184716
- GRCh38:
- Chr5:156757705
| SGCD | V234L | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely pathogenic
(May 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155754146-155754147
- GRCh38:
- Chr5:156327136-156327137
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Apr 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156021903-156021923
- GRCh38:
- Chr5:156594893-156594913
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Apr 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156186301-156186303
- GRCh38:
- Chr5:156759290-156759292
| SGCD | K259del, K258del | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155756590
- GRCh38:
- Chr5:156329580
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Apr 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155754243
- GRCh38:
- Chr5:156327233
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Mar 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156184631
- GRCh38:
- Chr5:156757620
| SGCD | G206fs, G207fs | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely pathogenic
(Mar 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156184679
- GRCh38:
- Chr5:156757668
| SGCD | C221*, C220* | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Conflicting interpretations of pathogenicity
(Jun 10, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:155754244
- GRCh38:
- Chr5:156327234
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Feb 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756591
- GRCh38:
- Chr5:156329581
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Uncertain significance
(Apr 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155753656-155753667
- GRCh38:
- Chr5:156326647-156326657
| SGCD | | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Benign/Likely benign
(May 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155754242-155754243
- GRCh38:
- Chr5:156327232-156327233
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Oct 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155754244
- GRCh38:
- Chr5:156327234
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Nov 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155771564
- GRCh38:
- Chr5:156344554
| SGCD | Y23*, Y22* | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely pathogenic
(Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155754243
- GRCh38:
- Chr5:156327233
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Jun 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156021894-156021895
- GRCh38:
- Chr5:156594884-156594885
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign
(Jun 26, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155771688
- GRCh38:
- Chr5:156344678
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Likely pathogenic
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156021907-156021908
- GRCh38:
- Chr5:156594897-156594898
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Likely benign
(Jan 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155756587
- GRCh38:
- Chr5:156329577
| SGCD | M1V | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Uncertain significance
(Jan 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155771498
- GRCh38:
- Chr5:156344488
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, not provided
| Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:156021993
- GRCh38:
- Chr5:156594983
| SGCD | S145C, S144C | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Uncertain significance
(Nov 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156074537
- GRCh38:
- Chr5:156647527
| SGCD | K189R, K188R | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156074530
- GRCh38:
- Chr5:156647520
| SGCD | P187S, P186S | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Uncertain significance
(Sep 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156022017
- GRCh38:
- Chr5:156595007
| SGCD | D153G, D152G | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156194781
- GRCh38:
- Chr5:156767770
| SGCD | | Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156194511
- GRCh38:
- Chr5:156767500
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Oct 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156193997
- GRCh38:
- Chr5:156766986
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan, not provided | Benign/Likely benign
(Aug 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156193960
- GRCh38:
- Chr5:156766949
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156193908
- GRCh38:
- Chr5:156766897
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Jul 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156193699
- GRCh38:
- Chr5:156766688
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Dec 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156193632
- GRCh38:
- Chr5:156766621
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Aug 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156193234
- GRCh38:
- Chr5:156766223
| SGCD | | Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jul 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156193045-156193046
- GRCh38:
- Chr5:156766034-156766035
| SGCD | | Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Nov 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156192624
- GRCh38:
- Chr5:156765613
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan | Uncertain significance
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156192466
- GRCh38:
- Chr5:156765455
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan | Uncertain significance
(Nov 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156192308
- GRCh38:
- Chr5:156765297
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan | Uncertain significance
(Sep 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156192150
- GRCh38:
- Chr5:156765139
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan | Uncertain significance
(Aug 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156191992
- GRCh38:
- Chr5:156764981
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan | Uncertain significance
(Oct 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156191868
- GRCh38:
- Chr5:156764857
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan | Uncertain significance
(Jul 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156191738
- GRCh38:
- Chr5:156764727
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan | Uncertain significance
(Oct 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156191394
- GRCh38:
- Chr5:156764383
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Oct 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156191009
- GRCh38:
- Chr5:156763998
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156190246
- GRCh38:
- Chr5:156763235
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156190180
- GRCh38:
- Chr5:156763169
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Qualitative or quantitative defects of delta-sarcoglycan | Uncertain significance
(Aug 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156189214
- GRCh38:
- Chr5:156762203
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Oct 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156189005
- GRCh38:
- Chr5:156761994
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156188257
- GRCh38:
- Chr5:156761246
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Oct 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156188120
- GRCh38:
- Chr5:156761109
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Nov 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156187307
- GRCh38:
- Chr5:156760296
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Oct 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156187154
- GRCh38:
- Chr5:156760143
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Sep 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156186559
- GRCh38:
- Chr5:156759548
| SGCD | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Sep 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156186244
- GRCh38:
- Chr5:156759233
| SGCD | A239V, A238V | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L | Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156022034
- GRCh38:
- Chr5:156595024
| SGCD | V159I, V158I | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Dilated Cardiomyopathy, Dominant
| Uncertain significance
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155754151
- GRCh38:
- Chr5:156327141
| SGCD | | Qualitative or quantitative defects of delta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Uncertain significance
(Sep 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156021908-156021909
- GRCh38:
- Chr5:156594898-156594899
| SGCD | | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
| Uncertain significance
(Jan 5, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155756600
- GRCh38:
- Chr5:156329590
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F,
not specified | Benign/Likely benign
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156184713
- GRCh38:
- Chr5:156757702
| SGCD | E233K, E232K | not specified, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156186283
- GRCh38:
- Chr5:156759272
| SGCD | T252M, T251M | not provided, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155771686
- GRCh38:
- Chr5:156344676
| SGCD | I64T, I63T | Inborn genetic diseases, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155771655
- GRCh38:
- Chr5:156344645
| SGCD | I54V, I53V | not provided, not specified, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155771527
- GRCh38:
- Chr5:156344517
| SGCD | R11Q, R10Q | not provided, Primary dilated cardiomyopathy, Dilated cardiomyopathy 1L,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155771587
- GRCh38:
- Chr5:156344577
| SGCD | R31Q, R30Q | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, not specified,
Qualitative or quantitative defects of delta-sarcoglycan, not provided, Cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155935686
- GRCh38:
- Chr5:156508676
| SGCD | Y90N, Y89N | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2F | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155756543
- GRCh38:
- Chr5:156329533
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, not provided
| Uncertain significance
(Feb 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155771672
- GRCh38:
- Chr5:156344662
| SGCD | | not specified, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
| Likely benign
(May 7, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156021909-156021916
- GRCh38:
- Chr5:156594899-156594906
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not specified
| Conflicting interpretations of pathogenicity
(Feb 6, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:155754253
- GRCh38:
- Chr5:156327243
| SGCD | | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not specified,
Qualitative or quantitative defects of delta-sarcoglycan | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:155771487
- GRCh38:
- Chr5:156344477
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F, not specified, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L | Conflicting interpretations of pathogenicity
(Aug 15, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:155753908
- GRCh38:
- Chr5:156326898
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L | Uncertain significance
(Dec 27, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:155754227
- GRCh38:
- Chr5:156327217
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L | Uncertain significance
(Aug 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:156021953
- GRCh38:
- Chr5:156594943
| SGCD | V132I, V131I | not specified, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2F,
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F | Conflicting interpretations of pathogenicity
(Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:156184787
- GRCh38:
- Chr5:156757776
| SGCD | | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, not specified,
Dilated cardiomyopathy 1A, Primary dilated cardiomyopathy | Uncertain significance
(Aug 23, 2021) | criteria provided, multiple submitters, no conflicts |