ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.3599-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Heidelberg University RCV004820972 SCV005441781 likely pathogenic Microcephaly 5, primary, autosomal recessive 2021-04-14 criteria provided, single submitter clinical testing This variant was found in compound heterozygous state.

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