ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3774+8G>A

gnomAD frequency: 0.00064  dbSNP: rs374806849
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078660 SCV000110516 uncertain significance not provided 2013-08-09 criteria provided, single submitter clinical testing
Invitae RCV001084899 SCV000776581 benign Hyperkalemic periodic paralysis 2023-12-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000078660 SCV003818717 benign not provided 2023-10-09 criteria provided, single submitter clinical testing

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