ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.3138G>A (p.Arg1046=)

gnomAD frequency: 0.25582  dbSNP: rs6676084
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145109 SCV000192152 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000145109 SCV000313167 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000020763 SCV000352720 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics RCV000145109 SCV000612414 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000020763 SCV000744806 benign Microcephaly 5, primary, autosomal recessive 2017-06-28 criteria provided, single submitter clinical testing
GeneDx RCV001711078 SCV001945143 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001711078 SCV002402803 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000020763 SCV004178708 benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711078 SCV005285986 benign not provided criteria provided, single submitter not provided
GeneReviews RCV000020763 SCV000041342 not provided Microcephaly 5, primary, autosomal recessive no assertion provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000020763 SCV000733976 benign Microcephaly 5, primary, autosomal recessive no assertion criteria provided clinical testing

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