ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1506G>A (p.Ser502=) (rs199713499)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041462 SCV000065157 likely benign not specified 2015-11-05 criteria provided, single submitter clinical testing p.Ser502Ser in exon 14 of OTOF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (23/11558) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org;dbSNP rs199713499).
GeneDx RCV000041462 SCV000727118 likely benign not specified 2018-02-01 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 RCV000905714 SCV001050307 benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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