Submissions for variant NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) (rs61745498)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000039597	SCV000063286	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Pro194His in Exon 06 of GPR98: This variant is not expected to have clinical sig nificance because it has been identified in 5.7% (175/3054) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs61745498).
GeneDx	RCV000039597	SCV000168737	benign	not specified	2014-03-21	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000710453	SCV000602444	benign	not provided	2017-11-17	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710453	SCV000840675	benign	not provided	2018-04-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000039597	SCV000193274	likely benign	not specified		no assertion criteria provided	clinical testing