ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.5584A>G (p.Lys1862Glu)

gnomAD frequency: 0.00014  dbSNP: rs527602809
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731090 SCV000858863 likely benign not specified 2018-01-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000898569 SCV001042781 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000898569 SCV001777618 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28004384, 22775483)
Genome-Nilou Lab RCV003453528 SCV004178635 likely benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918204 SCV004740501 likely benign ASPM-related disorder 2020-10-27 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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