ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.14440+9C>T

gnomAD frequency: 0.00003  dbSNP: rs753031362
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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 RCV001483485 SCV001687877 likely benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2024-01-21 criteria provided, single submitter clinical testing

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