Submissions for variant NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)

gnomAD frequency: 0.00425  dbSNP: rs116005007

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000594896	SCV000709482	uncertain significance	not provided	2017-06-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764512	SCV000895591	uncertain significance	Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000594896	SCV001110101	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001149289	SCV001310233	likely benign	Epidermolysis bullosa dystrophica	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Biomedical Innovation Departament, CIEMAT	RCV001149289	SCV001547289	likely benign	Epidermolysis bullosa dystrophica	2019-01-28	criteria provided, single submitter	research
GeneDx	RCV000594896	SCV001796209	likely benign	not provided	2018-07-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32707200, 26076072, 27153395)
CeGaT Center for Human Genetics Tuebingen	RCV000594896	SCV004154491	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	COL7A1: BP4, BS2
Natera, Inc.	RCV001273597	SCV001456755	benign	Epidermolysis bullosa dystrophica inversa, autosomal recessive	2020-01-02	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000594896	SCV001744079	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000594896	SCV001807382	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000594896	SCV001975812	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003980120	SCV004795287	likely benign	COL7A1-related disorder	2022-09-27	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).