ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4218C>G (p.Ala1406=)

gnomAD frequency: 0.00001  dbSNP: rs770836153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501785 SCV000596978 uncertain significance not specified 2017-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524292 SCV002980630 likely benign Familial hyperkalemic periodic paralysis 2022-07-09 criteria provided, single submitter clinical testing

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