ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1461C>T (p.Ala487=)

gnomAD frequency: 0.00005  dbSNP: rs541858248
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992888 SCV001145473 likely benign not provided 2018-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001471545 SCV001675653 likely benign Familial hyperkalemic periodic paralysis 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000992888 SCV005327007 likely benign not provided 2018-12-19 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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