ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=) (rs149459739)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039582 SCV000063271 benign not specified 2012-02-08 criteria provided, single submitter clinical testing Tyr1418Tyr in exon 20 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.9% (28/3010) of Af rican American chromosomes from a broad, though clinically unspecified populatio n (NHLBI Exome Sequencing Project; http://evs.gs.washington.edu/EVS, dbSNP rs149 459739).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039582 SCV000335680 benign not specified 2015-09-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710448 SCV000840668 benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Invitae RCV000710448 SCV001026466 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151336 SCV001312457 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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