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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525894 SCV000651275 benign Mosaic variegated aneuploidy syndrome 2 2024-01-29 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].
PreventionGenetics, part of Exact Sciences RCV003935493 SCV004761753 likely benign CEP57-related disorder 2019-02-21 criteria provided, single submitter 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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