ClinVar Miner

Submissions for variant NM_001723.7(DST):c.7284A>G (p.Thr2428=)

gnomAD frequency: 0.00019  dbSNP: rs150845451
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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 RCV000299053 SCV000464243 uncertain significance Hereditary sensory and autonomic neuropathy type 6 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086500 SCV000654557 benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2024-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000555930 SCV001154798 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing DST: BP4, BP7

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