ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.-26_-9del

gnomAD frequency: 0.00001  dbSNP: rs773996398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219154 SCV000271816 uncertain significance not specified 2015-06-19 criteria provided, single submitter clinical testing The c.-26_-9del in the 5' UTR of GPR98 has not previously been identified in ind ividual's with hearing loss, but has been identified in 6/8296 European chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. This variant is located in the 5' untranslated region (UTR) and variants in regulatory regions could have an effe ct on transcriptional or translational efficiency. In summary, the clinical sign ificance of the c.-26_-9del variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV004547520 SCV004747643 likely benign ADGRV1-related disorder 2020-07-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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