ClinVar Miner

Submissions for variant NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn) (rs150269814)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864879 SCV001005751 likely benign Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 2019-12-31 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790194 SCV000929586 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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