Submissions for variant NM_032119.4(ADGRV1):c.12527+6G>T

gnomAD frequency: 0.00192  dbSNP: rs141701016

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155113	SCV000204799	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	12527+6G>T in Intron 61 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.6% (17/3032) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs141701016).
Eurofins Ntd Llc (ga)	RCV000155113	SCV000344969	likely benign	not specified	2016-09-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000155113	SCV000595035	uncertain significance	not specified	2015-08-06	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710428	SCV000840643	likely benign	not provided	2017-12-14	criteria provided, single submitter	clinical testing
Invitae	RCV000710428	SCV001046748	likely benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001157419	SCV001318987	uncertain significance	Usher syndrome type 2C	2018-01-15	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000710428	SCV001872154	benign	not provided	2019-05-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965158	SCV004784859	likely benign	ADGRV1-related condition	2019-03-20	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000155113	SCV001921099	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710428	SCV001929532	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710428	SCV001973275	likely benign	not provided		no assertion criteria provided	clinical testing