Submissions for variant NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)

gnomAD frequency: 0.00016  dbSNP: rs143352280

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001415365	SCV001617524	likely benign	not provided	2024-01-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002542944	SCV003714276	likely benign	Inborn genetic diseases	2021-08-10	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc.	RCV001280111	SCV001467264	uncertain significance	Epidermolysis bullosa dystrophica inversa, autosomal recessive	2020-09-18	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001415365	SCV001807461	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001415365	SCV001973005	likely benign	not provided		no assertion criteria provided	clinical testing