ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12527+6G>T (rs141701016)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155113 SCV000204799 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing 12527+6G>T in Intron 61 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.6% (17/3032) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs141701016).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155113 SCV000344969 likely benign not specified 2016-09-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000155113 SCV000595035 uncertain significance not specified 2015-08-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710428 SCV000840643 likely benign not provided 2017-12-14 criteria provided, single submitter clinical testing
Invitae RCV000710428 SCV001046748 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001157419 SCV001318987 uncertain significance Usher syndrome, type 2C 2018-01-15 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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