ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.3387G>A (p.Pro1129=) (rs146781877)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214826 SCV000269499 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Pro1129Pro in exon 27 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 1.1% (8/758) of Eur opean chromosomes from a broad population by the 1000 Genomes Project (http://ww w.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs146781877).
Invitae RCV000971922 SCV001119601 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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