ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.855G>A (p.Pro285=)

gnomAD frequency: 0.00003  dbSNP: rs763725074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243255 SCV000303670 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001500127 SCV001704909 likely benign Familial hyperkalemic periodic paralysis 2022-10-13 criteria provided, single submitter clinical testing

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