ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5352T>C (p.Asn1784=)

gnomAD frequency: 0.00001  dbSNP: rs374079457
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001459597 SCV001663444 likely benign Hyperkalemic periodic paralysis 2024-07-10 criteria provided, single submitter clinical testing

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