Submissions for variant NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=)

gnomAD frequency: 0.00009  dbSNP: rs375062187

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000222926	SCV000270228	likely benign	not specified	2015-03-04	criteria provided, single submitter	clinical testing	p.Ala4791Ala in exon 70 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. In addition, it has been identified in 12/ 65972 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs375062187).
Eurofins Ntd Llc (ga)	RCV000725569	SCV000337880	uncertain significance	not provided	2015-12-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000222926	SCV000714331	likely benign	not specified	2017-11-17	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.
Invitae	RCV000725569	SCV001122338	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000725569	SCV001142923	uncertain significance	not provided	2019-03-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000725569	SCV001922889	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000725569	SCV001929255	likely benign	not provided		no assertion criteria provided	clinical testing