ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17857-11G>A

gnomAD frequency: 0.00001  dbSNP: rs918520562
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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 RCV000613078 SCV000712381 uncertain significance not specified 2016-07-21 criteria provided, single submitter clinical testing The c.17857-11G>A variant in GPR98 has not been previously reported in individua ls with hearing loss or Usher syndrome. Data from large population studies are i nsufficient to assess the frequency of this variant. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV003767438 SCV004642303 likely benign not provided 2024-10-07 criteria provided, single submitter clinical testing

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