Submissions for variant NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu)

gnomAD frequency: 0.00712  dbSNP: rs74632023

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039521	SCV000063210	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Pro4346Leu in Exon 64 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 2.5% (76/3026) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs74632023).
GeneDx	RCV000968058	SCV000522887	benign	not provided	2018-08-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000968058	SCV001115488	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002477112	SCV002801089	benign	Usher syndrome type 2C; Febrile seizures, familial, 4	2022-01-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000039521	SCV005621087	benign	not specified	2024-08-13	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000039521	SCV000193234	likely benign	not specified		no assertion criteria provided	clinical testing