ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) (rs34066624)

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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 RCV000152133 SCV000200825 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg1344Gln in Exon 08 of TRIOBP: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (30/6466) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://; dbSNP rs34066624).
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000664422 SCV000296983 likely benign Deafness, autosomal recessive 28 2018-05-03 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000442379 SCV000511562 likely benign not provided 2017-02-08 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000152133 SCV000717860 likely benign not specified 2017-12-06 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 RCV000442379 SCV001028788 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000442379 SCV001153689 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509516 SCV000606927 not provided Deafness no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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