ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1947C>T (p.Ile649=) (rs564134251)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704409 SCV000529558 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000441495 SCV000615066 benign not specified 2017-05-12 criteria provided, single submitter clinical testing
Invitae RCV000654690 SCV000776589 likely benign Familial hyperkalemic periodic paralysis 2020-06-21 criteria provided, single submitter clinical testing

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