Submissions for variant NM_001374736.1(DST):c.14461A>C (p.Asn4821His)

gnomAD frequency: 0.00260  dbSNP: rs139089184

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000982198	SCV001130211	benign	Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002416259	SCV002678841	likely benign	Inborn genetic diseases	2019-09-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics	RCV000982198	SCV002796477	likely benign	Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	2022-02-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004756149	SCV005352832	likely benign	DST-related disorder	2024-05-31	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).