ClinVar Miner

Submissions for variant NM_001723.7(DST):c.25C>T (p.Arg9Cys)

gnomAD frequency: 0.00193  dbSNP: rs75671065
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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 RCV000376434 SCV000464316 uncertain significance Hereditary sensory and autonomic neuropathy type 6 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000554847 SCV000654494 benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001805025 SCV002050558 likely benign not provided 2024-09-11 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV001805025 SCV004163677 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing DST: BP4, BS2
Department of Molecular Biology and Genetics, Acibadem University RCV005052810 SCV005686435 likely pathogenic Multiple sclerosis 2024-06-10 no assertion criteria provided research

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