ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.5889T>C (p.Ser1963=)

gnomAD frequency: 0.00032  dbSNP: rs146624492
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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) RCV000726179 SCV000342695 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
Invitae RCV000726179 SCV000554219 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726179 SCV002063902 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing SCN3A: BP4, BP7

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