ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.1357C>G (p.Arg453Gly)

dbSNP: rs1395763725
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292716 SCV001481343 uncertain significance Mosaic variegated aneuploidy syndrome 2 2019-03-22 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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