ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.979A>G (p.Ile327Val)

gnomAD frequency: 0.00453  dbSNP: rs35604386
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462676 SCV000559165 benign Mosaic variegated aneuploidy syndrome 2 2024-12-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708918 SCV005237166 benign not provided criteria provided, single submitter not provided

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