ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5525-7C>T (rs137853919)

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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 RCV000039593 SCV000063282 benign not specified 2012-04-30 criteria provided, single submitter clinical testing 5525-7C>T in intron 26 of GPR98: This variant is not expected to have clinical s ignificance because it has been identified in 0.8% (53/6588) of European America n chromosomes from a broad population by the NHLBI Exome sequencing project (htt p://evs.gs.washington.edu/EVS/; rs141528121).
Genetic Services Laboratory, University of Chicago RCV000039593 SCV000193270 likely benign not specified 2013-10-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039593 SCV000228480 benign not specified 2015-01-23 criteria provided, single submitter clinical testing
Invitae RCV000086996 SCV001099780 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001156879 SCV001318415 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086996 SCV000119249 not provided not provided no assertion provided not provided

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