ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=)

gnomAD frequency: 0.00005  dbSNP: rs748935500
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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) RCV000723899 SCV000203517 uncertain significance not provided 2014-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000723899 SCV000554230 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000723899 SCV004147100 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing SCN3A: BP4, BP7, BS1

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