ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.-110C>T

gnomAD frequency: 0.02032  dbSNP: rs74981632
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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 RCV000145068 SCV000192109 uncertain significance Microcephaly 5, primary, autosomal recessive 2013-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000145068 SCV000352761 likely benign Microcephaly 5, primary, autosomal recessive 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001725127 SCV001960700 benign not provided 2018-06-30 criteria provided, single submitter clinical testing

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