ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.44G>A (p.Arg15His)

gnomAD frequency: 0.00064  dbSNP: rs139769668
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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 RCV000713084 SCV000843652 uncertain significance not provided 2018-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713084 SCV001002572 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713084 SCV004147117 benign not provided 2022-04-01 criteria provided, single submitter clinical testing SCN3A: BS1, BS2

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