ClinVar Miner

Submissions for variant NM_001723.7(DST):c.5428T>C (p.Tyr1810His)

gnomAD frequency: 0.00678  dbSNP: rs79225819
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525861 SCV000654532 benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2024-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001840683 SCV002099698 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001840683 SCV005222090 likely benign not provided criteria provided, single submitter not provided

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