Submissions for variant NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=)

gnomAD frequency: 0.00381  dbSNP: rs190981860

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039608	SCV000063297	benign	not specified	2016-02-07	criteria provided, single submitter	clinical testing	Ala2106Ala in exon 29 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 1.8% (311/16422) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs190981860).
Eurofins Ntd Llc (ga)	RCV000039608	SCV000228733	benign	not specified	2015-04-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000710454	SCV000728525	benign	not provided	2018-09-11	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710454	SCV000840677	benign	not provided	2018-05-02	criteria provided, single submitter	clinical testing
Invitae	RCV000710454	SCV001117875	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155315	SCV001316737	likely benign	Usher syndrome type 2C	2018-01-12	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.
Fulgent Genetics, Fulgent Genetics	RCV002490545	SCV002802432	likely benign	Usher syndrome type 2C; Febrile seizures, familial, 4	2022-01-14	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039608	SCV001920378	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710454	SCV001966967	likely benign	not provided		no assertion criteria provided	clinical testing