ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.309A>G (p.Lys103=)

gnomAD frequency: 0.00001  dbSNP: rs587783229
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145108 SCV000192151 likely benign not specified 2016-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000922334 SCV001067760 likely benign not provided 2024-10-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453106 SCV004178786 likely benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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