ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4263A>G (p.Val1421=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002816303 SCV003204296 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2022-06-11 criteria provided, single submitter clinical testing

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