ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10769+9A>G (rs116184119)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039507 SCV000063196 benign not specified 2012-03-26 criteria provided, single submitter clinical testing 10769+9A>G in intron 51 of GPR98: This variant is not expected to have clinical significance because it has been identified in 82/6550 (1.25%) European American chromosomes from a broad, though clinically unspecified population (NHLBI Exom e Sequencing Project; http://evs.gs.washington.edu/EVS; rs116184119).
PreventionGenetics,PreventionGenetics RCV000039507 SCV000314847 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514739 SCV000610379 likely benign not provided 2017-08-02 criteria provided, single submitter clinical testing
GeneDx RCV000039507 SCV000714126 likely benign not specified 2017-11-06 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.
Athena Diagnostics Inc RCV000514739 SCV000840632 benign not provided 2018-02-20 criteria provided, single submitter clinical testing
Invitae RCV000514739 SCV001109993 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001157309 SCV001318868 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.

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