ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) (rs41288773)

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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 RCV000041533 SCV000065228 benign not specified 2011-06-09 criteria provided, single submitter clinical testing Cys1251Gly in exon 30 of OTOF: This variant is predicted to be benign based on i ts high frequency in the general population (rs41288773; heterozyogous frequency = 2.5%).
PreventionGenetics,PreventionGenetics RCV000041533 SCV000316861 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000041533 SCV000718105 likely benign not specified 2017-10-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041533 SCV000856268 benign not specified 2017-08-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992479 SCV001144822 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001143458 SCV001303985 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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