ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.16572A>G (p.Glu5524=)

gnomAD frequency: 0.00006  dbSNP: rs371044158
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001400373 SCV001602177 likely benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2023-11-22 criteria provided, single submitter clinical testing

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