ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.13555-17A>G

gnomAD frequency: 0.00625  dbSNP: rs41271868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001733232 SCV001981832 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073977 SCV002495452 benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001733232 SCV005222075 likely benign not provided criteria provided, single submitter not provided

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