ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.8187A>G (p.Lys2729=)

gnomAD frequency: 0.00016  dbSNP: rs779442940
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606470 SCV000723320 likely benign not specified 2017-09-29 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 RCV000922569 SCV001068003 likely benign not provided 2023-02-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000606470 SCV004100176 likely benign not specified 2023-09-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451425 SCV004177580 likely benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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