Submissions for variant NM_001723.7(DST):c.7135G>A (p.Ala2379Thr)

gnomAD frequency: 0.00140  dbSNP: rs140192373

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000526477	SCV000654555	likely benign	Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001700156	SCV002007201	likely benign	not provided	2021-05-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001700156	SCV004163665	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	DST: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001700156	SCV005222083	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001700156	SCV001925495	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001700156	SCV001927534	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001700156	SCV001958285	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003962588	SCV004788414	benign	DST-related disorder	2019-11-08	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).