Submissions for variant NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val)

gnomAD frequency: 0.44044  dbSNP: rs1057090

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146305	SCV000193571	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000146305	SCV000202997	benign	not specified	2014-04-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000020900	SCV000474662	benign	Microcephaly 1, primary, autosomal recessive	2018-03-06	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	RCV000146305	SCV000614067	benign	not specified	2017-08-02	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000020900	SCV000744352	benign	Microcephaly 1, primary, autosomal recessive	2015-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001539339	SCV001757101	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18204051)
Genome-Nilou Lab	RCV000020900	SCV002014135	benign	Microcephaly 1, primary, autosomal recessive	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001539339	SCV002380621	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001539339	SCV005272205	benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000020900	SCV000041500	not provided	Microcephaly 1, primary, autosomal recessive		no assertion provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000020900	SCV000734619	benign	Microcephaly 1, primary, autosomal recessive		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000146305	SCV001954998	benign	not specified		no assertion criteria provided	clinical testing