ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) (rs201733037)

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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 RCV000039633 SCV000063322 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Pro2528Ser in exon 33 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (27/6698) of European American chromosomes and 0.09% (3/3162) of African American chromosomes from a broad pop ulation by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/ ).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039633 SCV000229673 benign not specified 2015-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000039633 SCV000522889 likely benign not specified 2017-06-05 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 RCV000710461 SCV000840686 likely benign not provided 2018-02-28 criteria provided, single submitter clinical testing
Invitae RCV000710461 SCV001099034 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001155423 SCV001316849 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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