ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4417T>G (p.Phe1473Val) (rs1553474394)

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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. RCV000656132 SCV000611128 pathogenic Paroxysmal extreme pain disorder 2014-01-01 no assertion criteria provided clinical testing Variant is also found in another patient with the same disease published by Fertlemen et al 2006 (DOI 10.1016/j.neuron.2006.10.006).

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