Submissions for variant NM_001942.4(DSG1):c.31A>G (p.Met11Val)

gnomAD frequency: 0.45128  dbSNP: rs1426310

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455447	SCV000539027	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520702	SCV001729874	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001662404	SCV001875710	benign	Severe dermatitis-multiple allergies-metabolic wasting syndrome	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001662403	SCV001875711	benign	Palmoplantar keratoderma i, striate, focal, or diffuse	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001520702	SCV001988723	benign	not provided	2021-10-27	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001520702	SCV005247093	benign	not provided		criteria provided, single submitter	not provided