ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.3495-17T>C

gnomAD frequency: 0.01174  dbSNP: rs74865335
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001823364 SCV002072746 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing
Invitae RCV002077320 SCV002371757 benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002077320 SCV002801817 likely benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2022-02-10 criteria provided, single submitter clinical testing

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