Submissions for variant NM_001378609.3(OTOGL):c.335-9del

dbSNP: rs754987281

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000599898	SCV000731532	uncertain significance	not specified	2017-03-21	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The c.308-9delT var iant in OTOGL has not been previously reported in individuals with hearing loss, but has been identified in 16/64272 European chromosomes by the Exome Aggregati on Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs754987281). This va riant 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 o ut pathogenicity. In summary, while the clinical significance of the c.308-9delT variant is uncertain, this data suggests that it is more likely to be benign.
GeneDx	RCV001538851	SCV001756558	likely benign	not provided	2020-10-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001538851	SCV002449287	likely benign	not provided	2024-08-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004751635	SCV005353199	likely benign	OTOGL-related disorder	2024-08-08	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).