ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) (rs17554631)

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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 RCV000039524 SCV000063213 benign not specified 2010-03-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039524 SCV000314854 benign not specified 2016-02-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001153223 SCV001314496 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001518280 SCV001726944 benign not provided 2020-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001518280 SCV001848194 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001153223 SCV001933927 benign Usher syndrome, type 2C 2021-08-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000039524 SCV000193237 likely benign not specified no assertion criteria provided clinical testing

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