ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.*1A>G

gnomAD frequency: 0.00324  dbSNP: rs1058300
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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, Mass General Brigham Personalized Medicine RCV000152059 SCV000200679 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.*1A>G in exon 9 of TMPO: This variant is not expected to have clinical signifi cance because it has been identified in 0.6% (40/7020) of European American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS; dbSNP rs1058300).
GeneDx RCV001610460 SCV001838265 benign not provided 2018-10-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610460 SCV005218199 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003935277 SCV004756616 likely benign TMPO-related disorder 2024-06-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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