ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.8820+7C>G

gnomAD frequency: 0.00865  dbSNP: rs115045814
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145221 SCV000192272 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000145221 SCV000226815 benign not specified 2015-04-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307451 SCV000352635 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.
GeneDx RCV000145221 SCV000512125 benign not specified 2015-12-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000710650 SCV000840898 benign not provided 2017-10-25 criteria provided, single submitter clinical testing
Invitae RCV000710650 SCV001114126 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000307451 SCV002805998 likely benign Microcephaly 5, primary, autosomal recessive 2021-10-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000307451 SCV004172570 benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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