ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4415T>A (p.Ile1472Asn) (rs121908914)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Xenon Pharmaceuticals, Inc. RCV000656133 SCV000611129 pathogenic Paroxysmal extreme pain disorder 2014-01-01 no assertion criteria provided clinical testing Different variant at exact same position is known to cause same disease. See rs121908914.

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