ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu) (rs80338951)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020280 SCV000040635 benign Hyperkalemic Periodic Paralysis Type 1 2016-01-28 no assertion criteria provided literature only
OMIM RCV000201211 SCV000255931 pathogenic Congenital myasthenic syndrome, acetazolamide-responsive 2003-06-10 no assertion criteria provided literature only
GeneReviews RCV000235040 SCV000292414 pathogenic Congenital myasthenic syndrome 2016-07-14 no assertion criteria provided literature only

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