ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.4005-15A>G

dbSNP: rs387906274
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
OMIM RCV000002595 SCV000022753 pathogenic Microcephaly 3, primary, autosomal recessive 2005-04-01 no assertion criteria provided literature only
GeneReviews RCV000002595 SCV000055923 pathologic Microcephaly 3, primary, autosomal recessive 2009-09-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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