Submissions for variant NM_032119.4(ADGRV1):c.10769+9A>G

gnomAD frequency: 0.00645  dbSNP: rs116184119

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039507	SCV000063196	benign	not specified	2012-03-26	criteria provided, single submitter	clinical testing	10769+9A>G in intron 51 of GPR98: This variant is not expected to have clinical significance because it has been identified in 82/6550 (1.25%) European American chromosomes from a broad, though clinically unspecified population (NHLBI Exom e Sequencing Project; http://evs.gs.washington.edu/EVS; rs116184119).
PreventionGenetics, part of Exact Sciences	RCV000039507	SCV000314847	benign	not specified		criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514739	SCV000610379	likely benign	not provided	2017-08-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000514739	SCV000714126	benign	not provided	2018-07-10	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000514739	SCV000840632	benign	not provided	2018-02-20	criteria provided, single submitter	clinical testing
Invitae	RCV000514739	SCV001109993	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001157309	SCV001318868	likely benign	Usher syndrome type 2C	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000514739	SCV001470848	benign	not provided	2023-10-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514739	SCV004159125	benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	ADGRV1: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000514739	SCV001743560	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039507	SCV001922465	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000039507	SCV001927833	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039507	SCV001963991	benign	not specified		no assertion criteria provided	clinical testing