ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg)

gnomAD frequency: 0.00207  dbSNP: rs148328539
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727273 SCV000278802 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000222163 SCV000593440 likely benign not specified 2016-07-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727273 SCV000707164 uncertain significance not provided 2017-05-05 criteria provided, single submitter clinical testing
Invitae RCV000727273 SCV001026911 likely benign not provided 2024-01-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137830 SCV003825138 uncertain significance Microcephaly 5, primary, autosomal recessive 2021-03-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937863 SCV004748646 likely benign ASPM-related condition 2019-10-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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