Submissions for variant NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)

gnomAD frequency: 0.00140  dbSNP: rs113938044

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039502	SCV000063191	likely benign	not specified	2017-03-02	criteria provided, single submitter	clinical testing	p.Phe3420Phe in exon 49 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, has been identified in 0.3% (27/10150) of Ash kenazi Jewish chromosomes, 0.2% (229/126674) European chromosomes, and 0.2% (57/ 34414) Latino chromosomes by the Genome Aggregation Database (http://gnomad.broa dinstitute.org; dbSNP rs113938044) and is reported as benign in one publication (Le Quesne 2012).
Eurofins Ntd Llc (ga)	RCV000724542	SCV000230823	uncertain significance	not provided	2016-11-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000724542	SCV000513184	benign	not provided	2019-04-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22135276)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000724542	SCV001103052	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001152997	SCV001314240	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000724542	SCV004159123	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ADGRV1: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000039502	SCV001921055	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724542	SCV001930589	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724542	SCV001972930	likely benign	not provided		no assertion criteria provided	clinical testing