ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer)

dbSNP: rs1590962541
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791171 SCV000930447 likely pathogenic Mosaic variegated aneuploidy syndrome 2 2019-04-27 criteria provided, single submitter clinical testing

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