ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) (rs140613217)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041513 SCV000065208 likely benign not specified 2011-09-12 criteria provided, single submitter clinical testing Arg970Cys in exon 24 of OTOF: This variant has been identified in 0.1% (4/4422) of control chromosomes (rs140613217). This variant has also been identified in o ur laboratory in 0.5% (2/339) probands neither of which had a second OTOF varian t. In summary, this data suggests this variant is likely benign.
Athena Diagnostics Inc RCV000992476 SCV001144818 uncertain significance not provided 2019-07-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001139127 SCV001299238 likely benign Deafness, autosomal recessive 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.

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