Submissions for variant NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) (rs186999408)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000039607	SCV000063296	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Ala2106Val in Exon 29 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (22/3118) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000039607	SCV000228732	benign	not specified	2014-06-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000903694	SCV000321753	benign	not provided	2019-03-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22135276)
Invitae	RCV000903694	SCV001048174	likely benign	not provided	2020-11-25	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000903694	SCV001154439	uncertain significance	not provided	2021-05-01	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001155314	SCV001316736	uncertain significance	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, 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.
Clinical Genetics,Academic Medical Center	RCV000903694	SCV001922452	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000903694	SCV001926398	likely benign	not provided		no assertion criteria provided	clinical testing