ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4980C>T (p.Asp1660=) (rs149549554)

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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 RCV000601044 SCV000711172 benign not specified 2017-06-26 criteria provided, single submitter clinical testing p.Asp1660Asp in exon 40 of OTOF: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.5% (129/23970) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.b roadinstitute.org; dbSNP rs149549554).
GeneDx RCV000601044 SCV000728039 likely benign not specified 2018-03-01 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 RCV000921291 SCV001066691 benign not provided 2018-08-30 criteria provided, single submitter clinical testing

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