ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.318C>T (p.Ser106=) (rs138670794)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517219 SCV000615082 benign not specified 2016-09-01 criteria provided, single submitter clinical testing
GeneDx RCV001722438 SCV000732606 likely benign not provided 2019-05-24 criteria provided, single submitter clinical testing
Invitae RCV000872513 SCV001014333 benign Familial hyperkalemic periodic paralysis 2020-12-04 criteria provided, single submitter clinical testing

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