ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2721C>T (p.Leu907=)

gnomAD frequency: 0.00005  dbSNP: rs376432808
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174673 SCV000226014 uncertain significance not provided 2015-04-09 criteria provided, single submitter clinical testing
Invitae RCV001484181 SCV001688593 likely benign Familial hyperkalemic periodic paralysis 2023-11-25 criteria provided, single submitter clinical testing

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