ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.372A>G (p.Thr124=)

gnomAD frequency: 0.23539  dbSNP: rs11687696
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041530 SCV000065225 benign not specified 2007-03-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000041530 SCV000316860 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000021059 SCV000429652 benign Autosomal recessive nonsyndromic hearing loss 9 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000041530 SCV000717011 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000021059 SCV002029339 benign Autosomal recessive nonsyndromic hearing loss 9 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV002054463 SCV002494198 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneReviews RCV000021059 SCV000041714 not provided Autosomal recessive nonsyndromic hearing loss 9 no assertion provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.