Submissions for variant NM_032119.4(ADGRV1):c.22+9T>C

gnomAD frequency: 0.00236  dbSNP: rs368604803

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173536	SCV000224658	likely benign	not specified	2015-06-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000710442	SCV000602452	benign	not provided	2020-01-05	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000173536	SCV000711033	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	c.22+9T>C in intron 01 of GPR98: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 0.9% (18/2005) of African American chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs368604803).
Athena Diagnostics Inc	RCV000710442	SCV000840660	likely benign	not provided	2018-01-24	criteria provided, single submitter	clinical testing
Invitae	RCV000710442	SCV001037496	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907553	SCV004721009	likely benign	ADGRV1-related condition	2020-03-10	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	RCV000173536	SCV001925099	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710442	SCV001970113	likely benign	not provided		no assertion criteria provided	clinical testing