ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2025G>A (p.Glu675=)

gnomAD frequency: 0.00801  dbSNP: rs61746988
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Total submissions: 9
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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 RCV000041478 SCV000065173 benign not specified 2010-02-11 criteria provided, single submitter clinical testing
GeneDx RCV000958872 SCV000732325 benign not provided 2019-05-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16371502)
Invitae RCV000958872 SCV001105755 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000958872 SCV001144810 benign not provided 2019-07-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000021042 SCV001302246 likely benign Autosomal recessive nonsyndromic hearing loss 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen RCV000958872 SCV004140960 benign not provided 2023-12-01 criteria provided, single submitter clinical testing OTOF: BP4, BP7, BS1, BS2
GeneReviews RCV000021042 SCV000041696 not provided Autosomal recessive nonsyndromic hearing loss 9 no assertion provided literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000041478 SCV001957140 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000958872 SCV001970780 likely benign not provided no assertion criteria provided clinical testing

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