ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.2205G>A (p.Glu735=)

gnomAD frequency: 0.00002  dbSNP: rs755350285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000319151 SCV000332929 uncertain significance not provided 2015-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000319151 SCV002437739 benign not provided 2024-10-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967707 SCV004795212 likely benign ASPM-related disorder 2019-04-30 no assertion criteria provided 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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