ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3734-10A>C

gnomAD frequency: 0.00297  dbSNP: rs73920284
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Total submissions: 5
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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 RCV000041531 SCV000065226 benign not specified 2016-06-02 criteria provided, single submitter clinical testing c.3734-10A>C in intron 30 of OTOF: This variant is not expected to have clinical significance because it has been identified in 1.1% (106/9424) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs73920284).
Eurofins Ntd Llc (ga) RCV000041531 SCV000339382 benign not specified 2016-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000840102 SCV000982018 benign not provided 2020-02-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001143460 SCV001303987 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000840102 SCV002331743 benign not provided 2024-01-30 criteria provided, single submitter clinical testing

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