ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.9471A>G (p.Glu3157=)

gnomAD frequency: 0.00006  dbSNP: rs764291332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610805 SCV000721251 likely benign not specified 2017-07-14 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 RCV002065220 SCV002369871 likely benign not provided 2022-03-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451414 SCV004177547 likely benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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