ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3261C>T (p.Tyr1087=)

gnomAD frequency: 0.00001  dbSNP: rs534552884
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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 RCV001663804 SCV001879492 likely benign not specified 2020-09-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003505179 SCV004286416 likely benign Familial hyperkalemic periodic paralysis 2023-05-12 criteria provided, single submitter clinical testing

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