ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.9657T>G (p.Ser3219=)

gnomAD frequency: 0.00005  dbSNP: rs756879923
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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) RCV000726348 SCV000343992 uncertain significance not provided 2016-07-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000310407 SCV000593435 likely benign not specified 2016-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000726348 SCV000715950 likely benign not provided 2019-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000726348 SCV001080405 benign not provided 2023-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940070 SCV004752778 likely benign ASPM-related disorder 2019-06-21 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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