ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.228G>T (p.Val76=)

gnomAD frequency: 0.71801  dbSNP: rs2305022
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000146307 SCV000306937 benign not specified 2013-10-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000601335 SCV000474592 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 RCV000146307 SCV000614068 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000601335 SCV000744344 benign Microcephaly 1, primary, autosomal recessive 2017-06-28 criteria provided, single submitter clinical testing
GeneDx RCV001640181 SCV001861474 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000601335 SCV002014128 benign Microcephaly 1, primary, autosomal recessive 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV001640181 SCV002430153 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000146307 SCV000193573 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000601335 SCV000734611 benign Microcephaly 1, primary, autosomal recessive no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000146307 SCV001959981 benign not specified no assertion criteria provided clinical testing

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