ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.3132C>T (p.Asn1044=) (rs75133799)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000221975 SCV000269492 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Asn1044Asn in exon 25 of OTOG: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 4.5% (5/110) of Pue rto Rican chromosomes from a broad population by the 1000 Genomes Project (http: //www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs75133799).
GeneDx RCV000221975 SCV000717857 likely benign not specified 2017-11-03 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 RCV000953458 SCV001100031 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000953458 SCV001144838 benign not provided 2018-11-16 criteria provided, single submitter clinical testing

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