ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2076G>T (p.Arg692=)

gnomAD frequency: 0.00073  dbSNP: rs138769870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719054 SCV000728038 likely benign not provided 2020-11-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000611442 SCV000967271 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg692Arg in Exon 17 of OTOF: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.1% (4/3690) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs138769870).
Invitae RCV001719054 SCV002403985 benign not provided 2024-01-10 criteria provided, single submitter clinical testing

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