ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.5879G>A (p.Arg1960Gln)

gnomAD frequency: 0.00743  dbSNP: rs56259282
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 RCV001510830 SCV001717971 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001510830 SCV004152657 benign not provided 2024-04-01 criteria provided, single submitter clinical testing CEP250: BP4, BS1, BS2

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