ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.940G>C (p.Asp314His)

gnomAD frequency: 0.69210  dbSNP: rs930557
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000146337 SCV000306940 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000020903 SCV000474606 benign Microcephaly 1, 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 Inc RCV000146337 SCV000614072 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000020903 SCV000744346 benign Microcephaly 1, primary, autosomal recessive 2017-06-28 criteria provided, single submitter clinical testing
GeneDx RCV001594818 SCV001829005 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000020903 SCV002014130 benign Microcephaly 1, primary, autosomal recessive 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV001594818 SCV002403286 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
GeneReviews RCV000020903 SCV000041505 benign Microcephaly 1, primary, autosomal recessive 2009-09-01 no assertion criteria provided curation Converted during submission to Benign.
Genetic Services Laboratory,University of Chicago RCV000146337 SCV000193603 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000020903 SCV000734613 benign Microcephaly 1, primary, autosomal recessive no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000146337 SCV001952225 benign not specified no assertion criteria provided clinical testing

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