ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) (rs143157673)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155302 SCV000204988 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr195Ile in Exon 06 of TRIOBP: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (26/6650) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs143157673).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155302 SCV000334446 likely benign not specified 2015-09-02 criteria provided, single submitter clinical testing
GeneDx RCV000843701 SCV000985738 likely benign not provided 2018-05-31 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 RCV000843701 SCV001111786 likely benign not provided 2020-11-25 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000843701 SCV001153687 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286605 SCV001473208 likely benign Deafness, autosomal recessive 28 2019-12-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000843701 SCV001475701 likely benign not provided 2019-09-30 criteria provided, single submitter clinical testing

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