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

gnomAD frequency: 0.69651  dbSNP: rs2305022

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	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	2024-02-01	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