ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2025G>A (p.Glu675=) (rs61746988)

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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 RCV000041478 SCV000065173 benign not specified 2010-02-11 criteria provided, single submitter clinical testing
GeneDx RCV000041478 SCV000732325 likely benign not specified 2017-10-06 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 RCV000958872 SCV001105755 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000958872 SCV001144810 benign not provided 2019-07-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000021042 SCV001302246 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.
GeneReviews RCV000021042 SCV000041696 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.

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