ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.4200A>G (p.Lys1400=)

gnomAD frequency: 0.00947  dbSNP: rs35715547
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000386278 SCV000464293 likely benign Hereditary sensory and autonomic neuropathy type 6 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000542381 SCV000654493 benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001848701 SCV002104437 likely benign not provided 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001848701 SCV005222105 likely benign not provided criteria provided, single submitter not provided

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