ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5424G>A (p.Met1808Ile)

gnomAD frequency: 0.00042  dbSNP: rs201375413
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654699 SCV000776598 likely benign Familial hyperkalemic periodic paralysis 2024-01-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003488770 SCV004237165 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing

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