ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val) (rs202064612)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146074 SCV000193253 uncertain significance Febrile seizures, familial, 4 2013-10-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155099 SCV000204784 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Leu619Val in Exon 10 of GPR98: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (13/2896) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725995 SCV000341081 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152891 SCV001314130 uncertain significance 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, 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.

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