ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.724G>A (p.Ala242Thr) (rs61910753)

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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 RCV000218697 SCV000269520 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ala242Thr in exon 7 of OTOG: This variant is not expected to have clinical signi ficance because it has been identified in 13.1% (23/176) of Yoruba (Nigerian) ch romosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.n lm.nih.gov/projects/SNP; dbSNP rs61910753).
GeneDx RCV000218697 SCV000718126 benign not specified 2017-10-05 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.
Athena Diagnostics Inc RCV000712486 SCV000842988 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV000712486 SCV001103705 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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