ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.4066-32T>C

gnomAD frequency: 0.00012  dbSNP: rs143351980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817698 SCV002066902 likely benign not specified 2017-10-02 criteria provided, single submitter clinical testing
GeneDx RCV002225939 SCV002504386 likely benign not provided 2021-10-23 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome-Nilou Lab RCV003446923 SCV004172571 likely benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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