| - GRCh37:
- Chr4:52889578
- GRCh38:
- Chr4:52023412
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889349
- GRCh38:
- Chr4:52023183
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889323
- GRCh38:
- Chr4:52023157
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889296
- GRCh38:
- Chr4:52023130
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889147
- GRCh38:
- Chr4:52022981
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887736
- GRCh38:
- Chr4:52021570
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887700
- GRCh38:
- Chr4:52021534
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887679
- GRCh38:
- Chr4:52021513
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887629
- GRCh38:
- Chr4:52021463
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887309
- GRCh38:
- Chr4:52021143
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887153
- GRCh38:
- Chr4:52020987
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887080
- GRCh38:
- Chr4:52020914
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887067
- GRCh38:
- Chr4:52020901
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888885
- GRCh38:
- Chr4:52022719
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888821
- GRCh38:
- Chr4:52022655
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888753
- GRCh38:
- Chr4:52022587
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888744
- GRCh38:
- Chr4:52022578
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888610
- GRCh38:
- Chr4:52022444
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888570
- GRCh38:
- Chr4:52022404
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888556
- GRCh38:
- Chr4:52022390
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52886987
- GRCh38:
- Chr4:52020821
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52886910
- GRCh38:
- Chr4:52020744
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52894959
- GRCh38:
- Chr4:52028793
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2E | Conflicting interpretations of pathogenicity
(Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52890300
- GRCh38:
- Chr4:52024134
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52890004
- GRCh38:
- Chr4:52023838
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889858
- GRCh38:
- Chr4:52023692
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889764
- GRCh38:
- Chr4:52023598
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889722
- GRCh38:
- Chr4:52023556
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888445
- GRCh38:
- Chr4:52022279
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888102
- GRCh38:
- Chr4:52021936
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887976
- GRCh38:
- Chr4:52021810
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887841
- GRCh38:
- Chr4:52021675
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan | Likely benign
(Mar 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52890141
- GRCh38:
- Chr4:52023975
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2E | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52894998
- GRCh38:
- Chr4:52028832
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2E | Conflicting interpretations of pathogenicity
(Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52904397
- GRCh38:
- Chr4:52038231
| SGCB | E10G | Autosomal recessive limb-girdle muscular dystrophy type 2E, Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:52899591
- GRCh38:
- Chr4:52033425
| SGCB | | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2E, Qualitative or quantitative defects of beta-sarcoglycan
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52894135
- GRCh38:
- Chr4:52027969
| SGCB | A251V | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2E, Qualitative or quantitative defects of beta-sarcoglycan
| Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:52904441
- GRCh38:
- Chr4:52038275
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, not provided | Conflicting interpretations of pathogenicity
(Apr 30, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52904484
- GRCh38:
- Chr4:52038318
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52904455
- GRCh38:
- Chr4:52038289
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52904450
- GRCh38:
- Chr4:52038284
| SGCB | | not specified, Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of beta-sarcoglycan
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:52904443
- GRCh38:
- Chr4:52038277
| SGCB | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52904430
- GRCh38:
- Chr4:52038264
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52899815
- GRCh38:
- Chr4:52033649
| SGCB | | Autosomal recessive limb-girdle muscular dystrophy type 2E, Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive
| Conflicting interpretations of pathogenicity
(Jan 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52890282
- GRCh38:
- Chr4:52024116
| SGCB | | Autosomal recessive limb-girdle muscular dystrophy type 2E, Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive
| Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52890100
- GRCh38:
- Chr4:52023934
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889948
- GRCh38:
- Chr4:52023782
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889748
- GRCh38:
- Chr4:52023582
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889616
- GRCh38:
- Chr4:52023450
| SGCB | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889602
- GRCh38:
- Chr4:52023436
| SGCB | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of beta-sarcoglycan, not provided
| Benign
(May 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:52889454
- GRCh38:
- Chr4:52023288
| SGCB | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889399
- GRCh38:
- Chr4:52023233
| SGCB | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of beta-sarcoglycan, not provided
| Conflicting interpretations of pathogenicity
(May 25, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52889276
- GRCh38:
- Chr4:52023110
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889121
- GRCh38:
- Chr4:52022955
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889018
- GRCh38:
- Chr4:52022852
| SGCB | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of beta-sarcoglycan, not provided
| Conflicting interpretations of pathogenicity
(May 24, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52889010
- GRCh38:
- Chr4:52022844
| SGCB | | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889008
- GRCh38:
- Chr4:52022842
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52889005
- GRCh38:
- Chr4:52022839
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888998
- GRCh38:
- Chr4:52022832
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52888996
- GRCh38:
- Chr4:52022830
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888988
- GRCh38:
- Chr4:52022822
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888557
- GRCh38:
- Chr4:52022391
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888499
- GRCh38:
- Chr4:52022333
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888474-52888475
- GRCh38:
- Chr4:52022308-52022309
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888397-52888401
- GRCh38:
- Chr4:52022231-52022235
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888157-52888160
- GRCh38:
- Chr4:52021991-52021994
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52888026
- GRCh38:
- Chr4:52021860
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887994
- GRCh38:
- Chr4:52021828
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887957
- GRCh38:
- Chr4:52021791
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887837
- GRCh38:
- Chr4:52021671
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52887772
- GRCh38:
- Chr4:52021606
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887543
- GRCh38:
- Chr4:52021377
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887416
- GRCh38:
- Chr4:52021250
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887359
- GRCh38:
- Chr4:52021193
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887312
- GRCh38:
- Chr4:52021146
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887216
- GRCh38:
- Chr4:52021050
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive, not provided
| Conflicting interpretations of pathogenicity
(Dec 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52887163-52887167
- GRCh38:
- Chr4:52020997-52021001
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52887139
- GRCh38:
- Chr4:52020973
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52886907
- GRCh38:
- Chr4:52020741
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52886865
- GRCh38:
- Chr4:52020699
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, Limb-Girdle Muscular Dystrophy, Recessive | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52895022
- GRCh38:
- Chr4:52028856
| SGCB | | not provided, Qualitative or quantitative defects of beta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2E
| Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52895021
- GRCh38:
- Chr4:52028855
| SGCB | I166V | not provided, Autosomal recessive limb-girdle muscular dystrophy type 2E, Inborn genetic diseases,
not specified, Qualitative or quantitative defects of beta-sarcoglycan | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:52895015
- GRCh38:
- Chr4:52028849
| SGCB | M168V | Qualitative or quantitative defects of beta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2E, not provided
| Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:52895881
- GRCh38:
- Chr4:52029715
| SGCB | R131Q | Autosomal recessive limb-girdle muscular dystrophy type 2E, Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of beta-sarcoglycan,
not provided | Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:52904395
- GRCh38:
- Chr4:52038229
| SGCB | Q11* | Limb-Girdle Muscular Dystrophy, Recessive, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2E,
Qualitative or quantitative defects of beta-sarcoglycan | Pathogenic/Likely pathogenic
(Jan 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:52890281
- GRCh38:
- Chr4:52024115
| SGCB | R267C | Autosomal recessive limb-girdle muscular dystrophy type 2E, Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of beta-sarcoglycan,
not specified, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52904424-52904425
- GRCh38:
- Chr4:52038258-52038259
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2E
| Pathogenic/Likely pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:52904395
- GRCh38:
- Chr4:52038229
| SGCB | Q11E | not provided, Qualitative or quantitative defects of beta-sarcoglycan, not specified,
Autosomal recessive limb-girdle muscular dystrophy type 2E | Uncertain significance
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:52890137
- GRCh38:
- Chr4:52023971
| SGCB | G315R | Limb-Girdle Muscular Dystrophy, Recessive, Qualitative or quantitative defects of beta-sarcoglycan, not specified,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2E | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52895905
- GRCh38:
- Chr4:52029739
| SGCB | | Qualitative or quantitative defects of beta-sarcoglycan, not provided, Limb-Girdle Muscular Dystrophy, Recessive,
Autosomal recessive limb-girdle muscular dystrophy type 2E, Primary dilated cardiomyopathy | Conflicting interpretations of pathogenicity
(Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:52895932
- GRCh38:
- Chr4:52029766
| SGCB | | Inborn genetic diseases, Qualitative or quantitative defects of beta-sarcoglycan, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2E | Pathogenic/Likely pathogenic
(Nov 30, 2022) | criteria provided, multiple submitters, no conflicts |