ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.951C>G (p.Thr317=)

gnomAD frequency: 0.00080  dbSNP: rs201663991
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864353 SCV001005142 benign CHARGE association 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432802 SCV004162404 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing SEMA3E: BP4, BP7

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