ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) (rs111033393)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041560 SCV000065255 likely benign not specified 2012-05-08 criteria provided, single submitter clinical testing Thr1688Met in exon 40 of OTOF: This variant has been identified in three individ uals by our laboratory, none of whom had second OTOF variants and one of whom ha d another cause of hearing loss. In addition, this variant has been identified i n 0.19% (16/8600) of European American chromosomes in a broad population by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; dbSNP rs11103 3393). In summary, these data suggest this variant is likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041560 SCV000343185 likely benign not specified 2016-07-26 criteria provided, single submitter clinical testing
Invitae RCV000973013 SCV001120746 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000986603 SCV001135636 likely benign Deafness, autosomal recessive 9 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000973013 SCV001144826 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000986603 SCV001303879 uncertain significance 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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