ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) (rs72782753)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039587 SCV000063276 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ile1647Val in Exon 23 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (43/6558) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs72782753).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039587 SCV000228082 benign not specified 2014-06-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000039587 SCV000247505 likely benign not specified 2015-05-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710450 SCV000840671 likely benign not provided 2018-03-08 criteria provided, single submitter clinical testing
GeneDx RCV000710450 SCV000969512 benign not provided 2018-04-24 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 RCV000710450 SCV001118839 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710450 SCV001154436 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001154381 SCV001315737 uncertain significance Usher syndrome, type 2C 2018-01-13 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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