ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.427dup (p.Thr143fs)

dbSNP: rs199422125
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454240 SCV000537999 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
Genetic Services Laboratory,University of Chicago RCV000003619 SCV000595723 pathogenic Microcephaly 1, primary, autosomal recessive 2016-10-27 criteria provided, single submitter clinical testing
OMIM RCV000003619 SCV000023782 pathogenic Microcephaly 1, primary, autosomal recessive 2006-07-01 no assertion criteria provided literature only
GeneReviews RCV000003619 SCV000041502 pathologic Microcephaly 1, primary, autosomal recessive 2009-09-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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