ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.1095C>T (p.Val365=) (rs74921579)

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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 RCV000213427 SCV000269473 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Val365Val in exon 9 of OTOG: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 3.4% (6/176) of Yorub a (Nigerian) chromosomes from a broad population by the 1000 Genomes Project (ht tp://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs74921579).
GeneDx RCV000213427 SCV000717961 likely benign not specified 2018-01-16 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 RCV000968210 SCV001115648 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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