ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.7761T>C (p.Tyr2587=)

gnomAD frequency: 0.00003  dbSNP: rs189678019
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616429 SCV000720084 likely benign not specified 2017-06-09 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.
CeGaT Center for Human Genetics Tuebingen RCV003420060 SCV004125184 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing ASPM: BP4, BP7
Genome-Nilou Lab RCV003451413 SCV004177596 likely benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003420060 SCV004676506 likely benign not provided 2022-12-07 criteria provided, single submitter clinical testing

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