ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.945G>A (p.Lys315=)

gnomAD frequency: 0.07420  dbSNP: rs41288779
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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, Mass General Brigham Personalized Medicine RCV000041591 SCV000065286 benign not specified 2007-03-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000041591 SCV000316874 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000021076 SCV000429643 likely benign Autosomal recessive nonsyndromic hearing loss 9 2018-01-13 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000041591 SCV000717824 benign not specified 2017-05-09 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.
Invitae RCV002054466 SCV002444224 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneReviews RCV000021076 SCV000041734 not provided Autosomal recessive nonsyndromic hearing loss 9 no assertion provided literature only

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