Submissions for variant NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=)

gnomAD frequency: 0.00016  dbSNP: rs115239207

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217397	SCV000270224	likely benign	not specified	2015-09-08	criteria provided, single submitter	clinical testing	p.Pro352Pro in Exon 7 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 17/66708 European ch romosomes and 5/11576 Latino chromosomes by the Exome Aggregation Consortium (Ex AC, http://exac.broadinstitute.org; dbSNP rs115239207).
Eurofins Ntd Llc (ga)	RCV000725571	SCV000337882	uncertain significance	not provided	2015-12-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000725571	SCV000725052	likely benign	not provided	2020-11-24	criteria provided, single submitter	clinical testing
Invitae	RCV000725571	SCV001035419	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000725571	SCV001923862	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725571	SCV001965816	likely benign	not provided		no assertion criteria provided	clinical testing