ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.20975A>G (p.Asn6992Ser)

gnomAD frequency: 0.00005  dbSNP: rs780386919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000805306 SCV000945257 uncertain significance Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2021-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028213 SCV004861078 likely benign Inborn genetic diseases 2023-12-20 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.

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