ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.677G>A (p.Arg226His)

gnomAD frequency: 0.00168  dbSNP: rs143711180
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525894 SCV000651275 benign Mosaic variegated aneuploidy syndrome 2 2024-12-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000525894 SCV001481494 uncertain significance Mosaic variegated aneuploidy syndrome 2 2019-01-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004975665 SCV005554951 likely benign Inborn genetic diseases 2024-10-02 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.
PreventionGenetics, part of Exact Sciences RCV003935493 SCV004761753 likely benign CEP57-related disorder 2019-02-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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