ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.471C>T (p.Ala157=)

gnomAD frequency: 0.00001  dbSNP: rs753111395
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872288 SCV001014081 likely benign Mosaic variegated aneuploidy syndrome 2 2023-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004973110 SCV005561127 likely benign Inborn genetic diseases 2024-11-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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