| - GRCh37:
- Chr3:48604152
- GRCh38:
- Chr3:48566719
| COL7A1 | G2749* | Recessive dystrophic epidermolysis bullosa | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:48623549-48623552
- GRCh38:
- Chr3:48586116-48586119
| COL7A1 | S1227fs | Recessive dystrophic epidermolysis bullosa | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:48623635
- GRCh38:
- Chr3:48586202
| COL7A1 | Q1199* | Recessive dystrophic epidermolysis bullosa, Pretibial blistering, Transient bullous dermolysis of the newborn,
Epidermolysis bullosa pruriginosa | Likely pathogenic
(Aug 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48606870
- GRCh38:
- Chr3:48569437
| COL7A1 | G2542R | Recessive dystrophic epidermolysis bullosa | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr3:48609945
- GRCh38:
- Chr3:48572512
| COL7A1 | K2309N | Recessive dystrophic epidermolysis bullosa | Uncertain significance
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48604556
- GRCh38:
- Chr3:48567123
| COL7A1 | | Recessive dystrophic epidermolysis bullosa | Uncertain significance
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48621370-48621374
- GRCh38:
- Chr3:48583937-48583941
| COL7A1 | | Recessive dystrophic epidermolysis bullosa | Uncertain significance
(Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48621361
- GRCh38:
- Chr3:48583928
| COL7A1 | G1417fs | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Dec 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48616694
- GRCh38:
- Chr3:48579261
| COL7A1 | P1775fs | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48610366-48610367
- GRCh38:
- Chr3:48572933-48572934
| COL7A1 | G2254fs | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48604595
- GRCh38:
- Chr3:48567162
| COL7A1 | G2692D | Recessive dystrophic epidermolysis bullosa | Likely pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48602254
- GRCh38:
- Chr3:48564821
| COL7A1 | R2927H | Dominant dystrophic epidermolysis bullosa with absence of skin, Recessive dystrophic epidermolysis bullosa, Nonsyndromic congenital nail disorder 8,
Epidermolysis bullosa pruriginosa, Generalized dominant dystrophic epidermolysis bullosa, Transient bullous dermolysis of the newborn,
Pretibial blistering, not provided | Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:48610366
- GRCh38:
- Chr3:48572933
| COL7A1 | G2254R | Recessive dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa | Likely pathogenic
(Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48617753
- GRCh38:
- Chr3:48580320
| COL7A1 | K1693E | Recessive dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa | Uncertain significance
(Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48617779
- GRCh38:
- Chr3:48580346
| COL7A1 | | Generalized dominant dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa | Likely pathogenic
(Oct 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48618048
- GRCh38:
- Chr3:48580615
| COL7A1 | G1673E | Recessive dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa | Likely pathogenic
(Feb 16, 2022) | criteria provided, single submitter |
| | COL7A1 | G2233S | not provided, Pretibial blistering, Recessive dystrophic epidermolysis bullosa
| Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:48629901
- GRCh38:
- Chr3:48592468
| COL7A1 | | Recessive dystrophic epidermolysis bullosa | Likely pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | G2910V | Recessive dystrophic epidermolysis bullosa | Likely pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | G2749fs | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | G2734R | Recessive dystrophic epidermolysis bullosa | Likely pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | E27V | Recessive dystrophic epidermolysis bullosa | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | | Recessive dystrophic epidermolysis bullosa | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48605966
- GRCh38:
- Chr3:48568533
| COL7A1 | | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48607311
- GRCh38:
- Chr3:48569878
| COL7A1 | | Recessive dystrophic epidermolysis bullosa | Likely pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | | Recessive dystrophic epidermolysis bullosa, Transient bullous dermolysis of the newborn | Pathogenic/Likely pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| | COL7A1 | G2278R | Recessive dystrophic epidermolysis bullosa | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | G2245S | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | G2216E | not provided, Recessive dystrophic epidermolysis bullosa | Pathogenic
(Nov 9, 2022) | criteria provided, multiple submitters, no conflicts |
| | COL7A1 | | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | G2025S | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | P1894fs | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | G1890V | Recessive dystrophic epidermolysis bullosa | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | G1667W | Recessive dystrophic epidermolysis bullosa | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | G1610fs | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48619788
- GRCh38:
- Chr3:48582355
| COL7A1 | | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | G1528D | Recessive dystrophic epidermolysis bullosa | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48621050
- GRCh38:
- Chr3:48583617
| COL7A1 | | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | | Recessive dystrophic epidermolysis bullosa | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48625373
- GRCh38:
- Chr3:48587940
| COL7A1 | | Recessive dystrophic epidermolysis bullosa | Likely pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | | Recessive dystrophic epidermolysis bullosa | Likely pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | G2806fs | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | | Recessive dystrophic epidermolysis bullosa | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | | Recessive dystrophic epidermolysis bullosa | Likely pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | K2309T | Recessive dystrophic epidermolysis bullosa | Likely pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | G115fs | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| | COL7A1 | | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48614141
- GRCh38:
- Chr3:48576708
| COL7A1 | G1890S | Recessive dystrophic epidermolysis bullosa | Uncertain significance
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48619751
- GRCh38:
- Chr3:48582318
| COL7A1 | | Recessive dystrophic epidermolysis bullosa | Uncertain significance
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48614433
- GRCh38:
- Chr3:48577000
| COL7A1 | G1854R | Recessive dystrophic epidermolysis bullosa, not provided | Pathogenic/Likely pathogenic
(Dec 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48612807
- GRCh38:
- Chr3:48575374
| COL7A1 | G2049R | Recessive dystrophic epidermolysis bullosa | Uncertain significance
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48620053
- GRCh38:
- Chr3:48582620
| COL7A1 | K1518E | not provided, Nonsyndromic congenital nail disorder 8, Epidermolysis bullosa pruriginosa,
Generalized dominant dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa, Dominant dystrophic epidermolysis bullosa with absence of skin,
Transient bullous dermolysis of the newborn, Pretibial blistering | Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48622343
- GRCh38:
- Chr3:48584910
| COL7A1 | | Recessive dystrophic epidermolysis bullosa, not provided | Pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48629420
- GRCh38:
- Chr3:48591987
| COL7A1 | P423L | not provided, Nonsyndromic congenital nail disorder 8, Epidermolysis bullosa pruriginosa,
Generalized dominant dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa, Dominant dystrophic epidermolysis bullosa with absence of skin,
Transient bullous dermolysis of the newborn, Pretibial blistering | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:48630541
- GRCh38:
- Chr3:48593108
| COL7A1 | R226* | Recessive dystrophic epidermolysis bullosa, not provided | Pathogenic
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48606267
- GRCh38:
- Chr3:48568834
| COL7A1 | D2570fs | Recessive dystrophic epidermolysis bullosa, not provided | Pathogenic
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48608321-48608322
- GRCh38:
- Chr3:48570888-48570889
| COL7A1 | M2415fs | not provided, Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48625717
- GRCh38:
- Chr3:48588284
| COL7A1 | E903fs | not provided, Recessive dystrophic epidermolysis bullosa | Pathogenic
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48623628
- GRCh38:
- Chr3:48586195
| COL7A1 | R1201H | not provided, Nonsyndromic congenital nail disorder 8, Epidermolysis bullosa pruriginosa,
Generalized dominant dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa, Dominant dystrophic epidermolysis bullosa with absence of skin,
Transient bullous dermolysis of the newborn, Pretibial blistering | Uncertain significance
(Dec 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48613087
- GRCh38:
- Chr3:48575654
| COL7A1 | S1984L | Nonsyndromic congenital nail disorder 8, Epidermolysis bullosa pruriginosa, Recessive dystrophic epidermolysis bullosa,
Dominant dystrophic epidermolysis bullosa with absence of skin, Pretibial blistering, Transient bullous dermolysis of the newborn,
Generalized dominant dystrophic epidermolysis bullosa, not provided | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:48623594
- GRCh38:
- Chr3:48586161
| COL7A1 | F1213fs | not provided, Nonsyndromic congenital nail disorder 8, Epidermolysis bullosa pruriginosa,
Recessive dystrophic epidermolysis bullosa, Dominant dystrophic epidermolysis bullosa with absence of skin, Pretibial blistering,
Transient bullous dermolysis of the newborn, Generalized dominant dystrophic epidermolysis bullosa | Pathogenic/Likely pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48613990
- GRCh38:
- Chr3:48576557
| COL7A1 | G1901S | Nonsyndromic congenital nail disorder 8, Epidermolysis bullosa pruriginosa, Recessive dystrophic epidermolysis bullosa,
Dominant dystrophic epidermolysis bullosa with absence of skin, Pretibial blistering, Transient bullous dermolysis of the newborn,
Generalized dominant dystrophic epidermolysis bullosa, not provided | Uncertain significance
(May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48604347
- GRCh38:
- Chr3:48566914
| COL7A1 | G2740A | not provided, Recessive dystrophic epidermolysis bullosa | Conflicting interpretations of pathogenicity
(Mar 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:48620849
- GRCh38:
- Chr3:48583416
| COL7A1 | P1472T | Epidermolysis bullosa pruriginosa, Recessive dystrophic epidermolysis bullosa, Nonsyndromic congenital nail disorder 8,
Generalized dominant dystrophic epidermolysis bullosa, Pretibial blistering, Dominant dystrophic epidermolysis bullosa with absence of skin,
Transient bullous dermolysis of the newborn, not provided | Conflicting interpretations of pathogenicity
(Aug 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:48606873
- GRCh38:
- Chr3:48569440
| COL7A1 | R2541* | not provided, Recessive dystrophic epidermolysis bullosa | Pathogenic/Likely pathogenic
(Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48604151
- GRCh38:
- Chr3:48566718
| COL7A1 | G2749E | Recessive dystrophic epidermolysis bullosa | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr3:48624404
- GRCh38:
- Chr3:48586971
| COL7A1 | | Recessive dystrophic epidermolysis bullosa | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr3:48602593
- GRCh38:
- Chr3:48565160
| COL7A1 | E2857* | Recessive dystrophic epidermolysis bullosa | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr3:48629999
- GRCh38:
- Chr3:48592566
| COL7A1 | | Recessive dystrophic epidermolysis bullosa | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr3:48618049
- GRCh38:
- Chr3:48580616
| COL7A1 | G1673R | Recessive dystrophic epidermolysis bullosa | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48608583
- GRCh38:
- Chr3:48571150
| COL7A1 | G2372E | Recessive dystrophic epidermolysis bullosa | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48604625
- GRCh38:
- Chr3:48567192
| COL7A1 | | Recessive dystrophic epidermolysis bullosa | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48624986-48624987
- GRCh38:
- Chr3:48587553-48587554
| COL7A1 | E953fs | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48604449
- GRCh38:
- Chr3:48567016
| COL7A1 | P2706fs | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48605605
- GRCh38:
- Chr3:48568172
| COL7A1 | | Recessive dystrophic epidermolysis bullosa | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr3:48617462
- GRCh38:
- Chr3:48580029
| COL7A1 | | not provided, Recessive dystrophic epidermolysis bullosa | Likely pathogenic
(Dec 18, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48626905
- GRCh38:
- Chr3:48589472
| COL7A1 | | not provided, Recessive dystrophic epidermolysis bullosa | Likely pathogenic
(Jun 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48620597
- GRCh38:
- Chr3:48583164
| COL7A1 | R1482Q | Nonsyndromic congenital nail disorder 8, Transient bullous dermolysis of the newborn, Pretibial blistering,
Epidermolysis bullosa pruriginosa, Generalized dominant dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa,
Dominant dystrophic epidermolysis bullosa with absence of skin, Inborn genetic diseases, not provided
| Conflicting interpretations of pathogenicity
(Mar 29, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:48621494
- GRCh38:
- Chr3:48584061
| COL7A1 | G1400S | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48612849
- GRCh38:
- Chr3:48575416
| COL7A1 | E2035fs | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Dec 8, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr3:48612507
- GRCh38:
- Chr3:48575074
| COL7A1 | P2090fs | Abnormality of the skin | Pathogenic
(Jul 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48602350
- GRCh38:
- Chr3:48564917
| COL7A1 | R2895Q | not provided | Uncertain significance
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48624112
- GRCh38:
- Chr3:48586679
| COL7A1 | L1096Q | not provided | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48605015
- GRCh38:
- Chr3:48567582
| COL7A1 | G2680S | not provided, Recessive dystrophic epidermolysis bullosa | Pathogenic
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48627961
- GRCh38:
- Chr3:48590528
| COL7A1 | R613* | Recessive dystrophic epidermolysis bullosa, not provided | Pathogenic
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48618917
- GRCh38:
- Chr3:48581484
| COL7A1 | | Recessive dystrophic epidermolysis bullosa, not provided | Pathogenic
(Jun 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48618330
- GRCh38:
- Chr3:48580897
| COL7A1 | | not provided, Nonsyndromic congenital nail disorder 8, Transient bullous dermolysis of the newborn,
Epidermolysis bullosa pruriginosa, Generalized dominant dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa,
Dominant dystrophic epidermolysis bullosa with absence of skin, Pretibial blistering, Transient bullous dermolysis of the newborn
| Pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48630652
- GRCh38:
- Chr3:48593219
| COL7A1 | Q189* | Nonsyndromic congenital nail disorder 8, Transient bullous dermolysis of the newborn, Epidermolysis bullosa pruriginosa,
Generalized dominant dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa, Dominant dystrophic epidermolysis bullosa with absence of skin,
Pretibial blistering, not provided | Pathogenic/Likely pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48611317
- GRCh38:
- Chr3:48573884
| COL7A1 | Q2170* | not provided | Pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:48603978
- GRCh38:
- Chr3:48566545
| COL7A1 | G2775S | not provided, Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48630530
- GRCh38:
- Chr3:48593097
| COL7A1 | | Recessive dystrophic epidermolysis bullosa | Conflicting interpretations of pathogenicity | criteria provided, conflicting interpretations |
| | | | Recessive dystrophic epidermolysis bullosa | Pathogenic
(Oct 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr3:48630789
- GRCh38:
- Chr3:48593356
| COL7A1 | G174R | not provided, Recessive dystrophic epidermolysis bullosa | Likely pathogenic
(Jun 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48606237
- GRCh38:
- Chr3:48568804
| COL7A1 | R2580C | Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48607578
- GRCh38:
- Chr3:48570145
| COL7A1 | R2492* | Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa | Pathogenic
(Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48607896
- GRCh38:
- Chr3:48570463
| COL7A1 | | Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48608317
- GRCh38:
- Chr3:48570884
| COL7A1 | Q2417* | Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa | Pathogenic
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:48609451
- GRCh38:
- Chr3:48572018
| COL7A1 | G2351R | Recessive dystrophic epidermolysis bullosa, not provided, Epidermolysis bullosa dystrophica
| Pathogenic
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |