Submissions for variant NM_032119.4(ADGRV1):c.16079-11C>G

gnomAD frequency: 0.00009  dbSNP: rs374007277

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217117	SCV000271810	uncertain significance	not specified	2016-11-23	criteria provided, single submitter	clinical testing	The c.16079-11C>G variant in GPR98 has been previously reported by our laborator y in one individual with hearing loss; however, a variant affecting the remainin g copy of GPR98 was not identified. This variant has been identified in 4/10228 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs374007277). Although this variant has been seen in the g eneral population, its frequency is not high enough to rule out a pathogenic rol e. This variant is located in the 3' splice region. Computational tools do not s uggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.16079 -11C>G variant is uncertain.
GeneDx	RCV001569020	SCV001792995	likely benign	not provided	2021-08-30	criteria provided, single submitter	clinical testing
Invitae	RCV001569020	SCV002455791	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000217117	SCV001924985	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000217117	SCV001928909	benign	not specified		no assertion criteria provided	clinical testing