ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.282C>T (p.Ile94=)

gnomAD frequency: 0.00001  dbSNP: rs563602704
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713097 SCV000843667 benign not provided 2017-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532948 SCV003029248 likely benign Familial hyperkalemic periodic paralysis 2022-06-04 criteria provided, single submitter clinical testing

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