ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.7917A>G (p.Lys2639=)

gnomAD frequency: 0.00953  dbSNP: rs112647911
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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 RCV000145203 SCV000192253 likely benign not specified 2013-02-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350039 SCV000352647 likely 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 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 RCV000145203 SCV000512124 benign not specified 2016-03-09 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000960102 SCV001107050 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000145203 SCV001476935 benign not specified 2019-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000350039 SCV002794765 likely benign Microcephaly 5, primary, autosomal recessive 2022-01-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000350039 SCV004177587 benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000960102 SCV005260971 likely benign not provided criteria provided, single submitter not provided

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