ClinVar Miner

Submissions for variant NM_018451.5(CENPJ):c.3704A>T (p.Glu1235Val)

dbSNP: rs121434311
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000001891 SCV000022047 pathogenic Microcephaly 6, primary, autosomal recessive 2005-04-01 no assertion criteria provided literature only
GeneReviews RCV000001891 SCV000041445 not provided Microcephaly 6, primary, autosomal recessive no assertion provided literature only

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