ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.(?_18153)-15_*(15_?)del

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Total submissions: 1
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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 RCV000155450 SCV000205141 pathogenic Rare genetic deafness 2013-02-12 criteria provided, single submitter clinical testing The c.(?_18153-15)_(*15_?)del variant in GPR98 has not been reported in the lite rature nor previously identified by our laboratory. This variant is a deletion o f exons 86-90 of GPR98 and is predicted to result in a truncated or absent prote in. Homozygous exon or multi-exon deletions in GPR98 have been reported in indiv iduals affected with Usher syndrome type II and cosegregate with disease in fami lies (Hilgert 2009, Stabej 2012). In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).

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