ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.9928A>G (p.Ile3310Val)

gnomAD frequency: 0.00003  dbSNP: rs147256280
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145244 SCV000192301 uncertain significance Microcephaly 5, primary, autosomal recessive 2013-12-03 criteria provided, single submitter clinical testing

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