ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.6016G>A (p.Asp2006Asn)

gnomAD frequency: 0.00621  dbSNP: rs61729988
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 RCV000948493 SCV001094705 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000948493 SCV003916294 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing CEP250: BP4, BS2

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