ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7945+6C>T (rs139278305)

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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 RCV000039638 SCV000063327 benign not specified 2012-04-30 criteria provided, single submitter clinical testing 7945+6C>T in Intron 33 of GPR98: This variant is not expected to have clinical s ignificance because it has been identified in 3.4% (106/3074) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs139278305).
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514764 SCV000610034 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000039638 SCV000728527 benign not specified 2018-01-22 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.
Invitae RCV000514764 SCV001096712 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151655 SCV001312820 benign Usher syndrome, type 2C 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory, University of Chicago RCV000039638 SCV000193292 likely benign not specified no assertion criteria provided clinical testing

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