ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) (rs190981860)

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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 RCV000039608 SCV000063297 benign not specified 2016-02-07 criteria provided, single submitter clinical testing Ala2106Ala in exon 29 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 1.8% (311/16422) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b; dbSNP rs190981860).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000039608 SCV000228733 benign not specified 2015-04-02 criteria provided, single submitter clinical testing
GeneDx RCV000710454 SCV000728525 benign not provided 2018-09-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710454 SCV000840677 benign not provided 2018-05-02 criteria provided, single submitter clinical testing
Invitae RCV000710454 SCV001117875 benign not provided 2020-11-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001155315 SCV001316737 likely benign Usher syndrome, type 2C 2018-01-12 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.
Clinical Genetics,Academic Medical Center RCV000039608 SCV001920378 benign not specified no assertion criteria provided clinical testing

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