ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.3675C>T (p.Ser1225=)

gnomAD frequency: 0.00003  dbSNP: rs371562704
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 RCV002212841 SCV002370290 likely benign not provided 2022-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002212841 SCV004183906 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CEP250: BP4, BP7

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