ClinVar Miner

Submissions for variant NM_001723.7(DST):c.98T>C (p.Leu33Ser)

gnomAD frequency: 0.14270  dbSNP: rs1024196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000347570 SCV000464315 benign Hereditary sensory and autonomic neuropathy type 6 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515058 SCV001723045 benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001692035 SCV001912811 benign not provided 2021-03-28 criteria provided, single submitter clinical testing

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