ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) (rs202190568)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514796 SCV000610693 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000514796 SCV000231444 uncertain significance not provided 2014-08-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155112 SCV000204798 likely benign not specified 2016-10-06 criteria provided, single submitter clinical testing p.Arg4071Gln in exon 59 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, more than 10 different mammals have a glutamine (Gln) at this position despite high nearby amino acid conservation. In addition, this variant was iden tified in 0.1% (74/66372) of European chromosomes by the Exome Aggregation Conso rtium (ExAC, http://exac.broadinstitute.org; dbSNP rs202190568).

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