ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.1707G>A (p.Ala569=)

gnomAD frequency: 0.00001  dbSNP: rs369931804
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001498026 SCV001702767 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing

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