ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.2368T>C (p.Leu790=)

gnomAD frequency: 0.14274  dbSNP: rs2144407
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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 RCV000331265 SCV000464309 benign Hereditary sensory and autonomic neuropathy type 6 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515057 SCV001723044 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 RCV001672679 SCV001888701 benign not provided 2021-03-28 criteria provided, single submitter clinical testing

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