Submissions for variant NM_032119.4(ADGRV1):c.16841C>T (p.Thr5614Ile)

gnomAD frequency: 0.00082  dbSNP: rs149544995

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039543	SCV000063232	benign	not specified	2017-01-31	criteria provided, single submitter	clinical testing	p.Thr5614Ile in exon 78 of GPR98: This variant is not expected to have clinical significance because it has been identified in 3.7% (428/11554 ) of Latino chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs149544995).
GeneDx	RCV000039543	SCV000713885	benign	not specified	2017-03-22	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000949285	SCV001095535	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490542	SCV002796670	likely benign	Usher syndrome type 2C; Febrile seizures, familial, 4	2021-09-07	criteria provided, single submitter	clinical testing