ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.3325-8C>G (rs12792504)

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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 RCV000215269 SCV000269496 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 3325-8C>G in intron 26 of OTOG: This variant is not expected to have clinical si gnificance because it has been identified in 3.2% (6/186) of Finnish chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.go v/projects/SNP; dbSNP rs12792504).
GeneDx RCV000215269 SCV000717127 likely benign not specified 2018-02-23 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 RCV000959169 SCV001106059 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000959169 SCV001144839 benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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