ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.15121G>A (p.Val5041Ile)

gnomAD frequency: 0.05894  dbSNP: rs62621210
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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 RCV001510456 SCV001717492 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 RCV001685372 SCV001896944 benign not provided 2021-03-28 criteria provided, single submitter clinical testing

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