ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.89G>C (p.Arg30Pro)

dbSNP: rs577173144
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171200 SCV000221397 likely pathogenic not provided criteria provided, single submitter research
Baylor Genetics RCV001331874 SCV001524019 uncertain significance Mosaic variegated aneuploidy syndrome 2 2020-02-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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