ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.8508T>C (p.Asp2836=) (rs940623349)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612998 SCV000726550 likely benign not specified 2018-01-18 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000612998 SCV000966495 likely benign not specified 2018-03-30 criteria provided, single submitter clinical testing p.Asp2836Asp in exon 54 of OTOG: This variant is classified as likely benign bec ause it does not alter an amino acid residue, is not located within the splice c onsensus sequence, and splice prediction algorithms do not predict a newly creat ed splice site. It has been identified in 0.2% (58/23834) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; db SNP rs940623349). ACMG/AMP Criteria applied: BS1_Supporting; BP4; BP7.

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