ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.1859-14dup

dbSNP: rs747385902
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
Illumina Laboratory Services, Illumina RCV000383419 SCV000476945 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002523725 SCV003030221 benign not provided 2023-12-28 criteria provided, single submitter clinical testing

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