Submissions for variant NM_032119.4(ADGRV1):c.2241-10A>T (rs150996234)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000156853	SCV000206574	benign	not specified	2014-10-17	criteria provided, single submitter	clinical testing	c.2241-10A>T in intron 11 of GPR98: This variant is not expected to have clinica l significance because it does not cause the splice site sequence to diverge fro m consensus. It has been identified in 5.1% (9/178) of Japanese chromosomes and 1.0% (2/194) of Han Chinese chromosomes by the 1000 Genomes Project (dbSNP rs150 996234).
GeneDx	RCV000156853	SCV000717996	likely benign	not specified	2017-11-24	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.
Athena Diagnostics Inc	RCV000710443	SCV000840661	benign	not provided	2018-03-30	criteria provided, single submitter	clinical testing
Invitae	RCV000710443	SCV001047572	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001154173	SCV001315508	likely benign	Usher syndrome, type 2C	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.