ClinVar Miner

Submissions for variant NM_001723.7(DST):c.6031G>C (p.Val2011Leu)

gnomAD frequency: 0.42446  dbSNP: rs6459166
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000327829 SCV000464252 benign Hereditary sensory and autonomic neuropathy type 6 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520533 SCV001729653 benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001672677 SCV001885578 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000327829 SCV000734515 benign Hereditary sensory and autonomic neuropathy type 6 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699387 SCV001918516 benign not specified no assertion criteria provided clinical testing

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