Submissions for variant NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg)

gnomAD frequency: 0.00404  dbSNP: rs146704802

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000179907	SCV000193216	benign	not specified	2015-10-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000179907	SCV000232226	benign	not specified	2016-04-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000179907	SCV000728512	benign	not specified	2017-07-31	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics	RCV000711845	SCV000842250	benign	not provided	2019-07-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000711845	SCV001025716	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001121164	SCV001279722	likely benign	Bilateral frontoparietal polymicrogyria	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Fulgent Genetics, Fulgent Genetics	RCV002478407	SCV002804273	benign	Bilateral frontoparietal polymicrogyria; Polymicrogyria, bilateral perisylvian, autosomal recessive	2022-02-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000711845	SCV004139866	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ADGRG1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000711845	SCV005218487	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001121164	SCV002089400	likely benign	Bilateral frontoparietal polymicrogyria	2021-01-12	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917443	SCV004745829	benign	ADGRG1-related disorder	2019-03-15	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).