ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys)

gnomAD frequency: 0.00155  dbSNP: rs143294539
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193591 SCV000246583 likely benign not specified 2016-10-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000193591 SCV000342976 benign not specified 2016-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000894302 SCV000714804 likely benign not provided 2020-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000894302 SCV001038279 likely benign not provided 2024-12-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454491 SCV004178763 likely benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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