ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.5256A>C (p.Pro1752=) (rs959286824)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606693 SCV000727170 likely benign not specified 2018-02-06 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000606693 SCV000966498 likely benign not specified 2018-10-29 criteria provided, single submitter clinical testing The p.Pro1752Pro variant in OTOG is classified as likely benign because it does not alter an amino acid residue, is not located within the splice consensus site , and computational splice prediction tools do not predict an impact on splicing . It has been identified in 0.04% (11/23846) of Latino chromosomes by gnomAD (ht tp:// ACMG/AMP Criteria applied: BP4, BP7.

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