ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly)

gnomAD frequency: 0.99155  dbSNP: rs2515569
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000082198 SCV000114147 benign not specified 2014-12-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082198 SCV000306933 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000603959 SCV000474607 benign Microcephaly 1, 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 RCV000082198 SCV000614062 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000603959 SCV000744347 benign Microcephaly 1, primary, autosomal recessive 2017-06-28 criteria provided, single submitter clinical testing
GeneDx RCV001664382 SCV001871859 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000603959 SCV002014132 benign Microcephaly 1, primary, autosomal recessive 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV001664382 SCV002408071 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000082198 SCV000193533 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000603959 SCV000734614 benign Microcephaly 1, primary, autosomal recessive no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000082198 SCV001959343 benign not specified no assertion criteria provided clinical testing

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