ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.5478G>A (p.Gln1826=)

gnomAD frequency: 0.02380  dbSNP: rs17092712
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000958030 SCV001104855 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000958030 SCV001832682 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000958030 SCV005315709 benign not provided criteria provided, single submitter not provided

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