ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.1977T>C (p.Ile659=)

gnomAD frequency: 0.04184  dbSNP: rs17550662
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145092 SCV000192134 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000020751 SCV000352736 benign Microcephaly 5, primary, autosomal recessive 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000145092 SCV000612413 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
GeneDx RCV001650839 SCV001863925 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV001650839 SCV002404492 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000020751 SCV004178737 benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
GeneReviews RCV000020751 SCV000041330 not provided Microcephaly 5, primary, autosomal recessive no assertion provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000145092 SCV001953819 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000145092 SCV001973213 benign not specified no assertion criteria provided clinical testing

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