ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+2214C>G

gnomAD frequency: 0.06758  dbSNP: rs17459334
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000037747 SCV000051609 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037747 SCV000061409 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Gln599Glu in Exon 04 of TMPO: This variant is not expected to have clinical si gnificance because it has been identified in 9.6% (672/7020) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs17459334).
GeneDx RCV000037747 SCV000169004 benign not specified 2013-11-22 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.
Ambry Genetics RCV000037747 SCV000317538 benign not specified 2015-06-12 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001509969 SCV001716890 benign Loeys-Dietz syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707867 SCV005234856 benign not provided criteria provided, single submitter not provided

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