ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4590C>T (p.Phe1530=)

gnomAD frequency: 0.00001  dbSNP: rs199824534
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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 RCV000992900 SCV001145488 likely benign not provided 2018-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549814 SCV003467241 likely benign Familial hyperkalemic periodic paralysis 2023-07-17 criteria provided, single submitter clinical testing

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