ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.3967G>A (p.Ala1323Thr)

gnomAD frequency: 0.01012  dbSNP: rs114063154
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001515242 SCV001723274 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001515242 SCV004152655 benign not provided 2024-07-01 criteria provided, single submitter clinical testing CEP250: BP4, BS1, BS2
Clinical Genetics, Academic Medical Center RCV001701181 SCV001926106 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001515242 SCV001968050 likely benign not provided no assertion criteria provided clinical testing

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