ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.501A>G (p.Lys167=)

gnomAD frequency: 0.00014  dbSNP: rs140524256
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000866156 SCV001007216 likely benign Mosaic variegated aneuploidy syndrome 2 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392645 SCV004131315 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing CEP57: BP4, BP7

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