ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.6110C>T (p.Ala2037Val) (rs61736002)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000224482 SCV000842987 likely benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224482 SCV000280663 uncertain significance not provided 2016-05-12 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000215530 SCV000863024 likely benign not specified 2018-09-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215530 SCV000269516 benign not specified 2016-02-02 criteria provided, single submitter clinical testing p.Ala2037Val in exon 35 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (36/5462) of South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs61736002).

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