ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4054A>G (p.Asn1352Asp)

dbSNP: rs1694962022
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001317333 SCV001507990 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2021-08-26 criteria provided, single submitter clinical testing

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