ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) (rs201724032)

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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 RCV000152148 SCV000200847 benign not specified 2016-05-21 criteria provided, single submitter clinical testing p.Ser2121Leu in exon 18 of TRIOBP: This variant is not expected to have clinical significance because it has been identified in 0.6% (46/7960) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs201724032).
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000784920 SCV000923461 uncertain significance Deafness, autosomal recessive 28 2019-01-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288530 SCV001475702 likely benign not provided 2020-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001288530 SCV001772304 likely benign not provided 2021-05-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29197352, 28089734, 27068579, 27014650)

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