ClinVar Miner

Submissions for variant NM_001723.7(DST):c.7765A>G (p.Ile2589Val)

gnomAD frequency: 0.02502  dbSNP: rs150191284
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000310761 SCV000464237 likely benign Hereditary sensory and autonomic neuropathy type 6 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000537128 SCV000654564 benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001726142 SCV001981747 likely benign not provided 2021-03-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001726142 SCV005222082 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001700345 SCV001924266 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726142 SCV001964341 likely benign not provided no assertion criteria provided clinical testing

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