ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) (rs200412477)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178540 SCV000230637 benign not specified 2015-01-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000178540 SCV000247506 likely benign not specified 2015-05-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000178540 SCV000269138 benign not specified 2016-03-03 criteria provided, single submitter clinical testing p.Thr3122Thr in Exon 43 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, and has been identified in 3% (503/16486) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b; dbSNP rs200412477).
Athena Diagnostics Inc RCV000710469 SCV000840696 benign not provided 2018-04-11 criteria provided, single submitter clinical testing
GeneDx RCV000710469 SCV000980359 benign not provided 2018-05-23 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 RCV000710469 SCV001118024 benign not provided 2020-11-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001157219 SCV001318770 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Clinical Genetics,Academic Medical Center RCV000178540 SCV001920640 benign not specified no assertion criteria provided clinical testing

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