ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala)

gnomAD frequency: 0.00123  dbSNP: rs200055351
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039610 SCV000063299 benign not specified 2015-02-02 criteria provided, single submitter clinical testing Val2203Ala in exon 30 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 1% (121/12344) of South Asian chro mosomes with 2 homozygotes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org.
Eurofins Ntd Llc (ga) RCV000039610 SCV000336108 benign not specified 2015-10-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585498 SCV000693177 benign not provided 2022-10-01 criteria provided, single submitter clinical testing ADGRV1: BP4, BS1, BS2
GeneDx RCV000585498 SCV000969514 benign not provided 2018-06-12 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.
Invitae RCV000585498 SCV001100878 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001156988 SCV001318530 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.
Clinical Genetics, Academic Medical Center RCV000039610 SCV001926239 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000585498 SCV001928713 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000585498 SCV001962993 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000585498 SCV001964600 likely benign not provided no assertion criteria provided clinical testing

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