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

gnomAD frequency: 0.99155  dbSNP: rs2515569

Total submissions: 11

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