ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.936A>G (p.Thr312=)

dbSNP: rs41290918
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001516650 SCV001724960 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001516650 SCV004152647 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing CEP250: BP4, BP7, BS2
Clinical Genetics, Academic Medical Center RCV001699797 SCV001924244 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001516650 SCV001966928 likely benign not provided no assertion criteria provided clinical testing

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