ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.288A>C (p.Thr96=)

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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 RCV005214936 SCV005857126 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-02-02 criteria provided, single submitter clinical testing

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