ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
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
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.
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.
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://evs.gs.washington.edu/EVS; dbSNP rs34066624).

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