Submissions for variant NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=)

gnomAD frequency: 0.00414  dbSNP: rs149459739

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039582	SCV000063271	benign	not specified	2012-02-08	criteria provided, single submitter	clinical testing	Tyr1418Tyr in exon 20 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 0.9% (28/3010) of Af rican American chromosomes from a broad, though clinically unspecified populatio n (NHLBI Exome Sequencing Project; http://evs.gs.washington.edu/EVS, dbSNP rs149 459739).
Eurofins Ntd Llc (ga)	RCV000039582	SCV000335680	benign	not specified	2015-09-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710448	SCV000840668	benign	not provided	2018-04-11	criteria provided, single submitter	clinical testing
Invitae	RCV000710448	SCV001026466	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001151336	SCV001312457	likely benign	Usher syndrome type 2C	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000710448	SCV001914553	benign	not provided	2019-07-08	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496632	SCV002803132	likely benign	Usher syndrome type 2C; Febrile seizures, familial, 4	2021-08-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710448	SCV004159110	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	ADGRV1: BP4, BP7, BS1, BS2