ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.3742-3dup

dbSNP: rs587783236
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145119 SCV000192163 benign not specified 2014-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000145119 SCV000723078 likely benign not specified 2017-09-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055870 SCV002354805 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445559 SCV004172572 benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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