ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.-9G>T

gnomAD frequency: 0.00105  dbSNP: rs141108591
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000431277 SCV000192110 benign not specified 2015-09-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000309943 SCV000352758 likely benign Microcephaly 5, primary, autosomal recessive 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001704066 SCV000523331 benign not provided 2018-05-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000309943 SCV004172585 benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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