ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.5271C>A (p.Leu1757=) (rs193083374)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213637 SCV000269510 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Leu1757Leu in exon 35 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 2.9% (5/170) of Eur opean American chromosomes from a broad population by the 1000 Genomes Project (; dbSNP rs193083374).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000213637 SCV000704971 benign not specified 2017-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000213637 SCV000717921 likely benign not specified 2017-11-29 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 RCV000949769 SCV001096037 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000949769 SCV001144845 benign not provided 2018-08-31 criteria provided, single submitter clinical testing

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