ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=)

gnomAD frequency: 0.00002  dbSNP: rs753725579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176454 SCV000228113 uncertain significance not provided 2014-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056949 SCV002439140 likely benign Familial hyperkalemic periodic paralysis 2022-10-07 criteria provided, single submitter clinical testing

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