ClinVar Miner

Submissions for variant NM_014679.5(CEP57):c.807+3G>A

gnomAD frequency: 0.00725  dbSNP: rs181776180
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 RCV000228983 SCV000289996 benign Mosaic variegated aneuploidy syndrome 2 2024-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706680 SCV005237155 benign not provided criteria provided, single submitter not provided

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