ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs) (rs606231279)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000144933 SCV000191929 pathogenic NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID 2013-04-30 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790201 SCV000929593 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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