ClinVar Miner

Submissions for variant NM_015114.3(ANKLE2):c.1717C>G (p.Leu573Val) (rs863225465)

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Total submissions: 2
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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 RCV000203271 SCV000256746 likely pathogenic Microcephaly 2014-09-25 criteria provided, single submitter research Overexpression of human cDNA carring this variant does not rescue mutant fly
OMIM RCV000202421 SCV000257470 pathogenic Microcephaly 16, primary, autosomal recessive 2014-09-25 no assertion criteria provided literature only

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