ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3403C>A (p.Arg1135Ser)

dbSNP: rs1287863349
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001090156 SCV001245605 likely pathogenic Hypokalemic periodic paralysis, type 2 2019-04-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV001090156 SCV001520555 likely pathogenic Hypokalemic periodic paralysis, type 2 2019-04-12 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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