ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg) (rs41311625)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039557 SCV000063246 benign not specified 2012-05-15 criteria provided, single submitter clinical testing Leu6249Arg in Exon 89 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (24/3090) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs41311625).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000039557 SCV000340152 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing
GeneDx RCV000903077 SCV000589703 benign not provided 2019-03-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22135276, 26969326, 28322503, 31130284)
Invitae RCV000903077 SCV001047528 benign not provided 2020-11-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001153546 SCV001314841 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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