ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3027C>T (p.Ile1009=)

gnomAD frequency: 0.00006  dbSNP: rs750690287
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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 RCV000518082 SCV000615077 benign not specified 2017-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001455771 SCV001659537 likely benign Familial hyperkalemic periodic paralysis 2022-07-06 criteria provided, single submitter clinical testing

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