ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.*10G>A

gnomAD frequency: 0.00011  dbSNP: rs369012029
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126208 SCV000169703 benign not specified 2014-04-21 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.
Illumina Laboratory Services, Illumina RCV000334196 SCV000439300 uncertain significance Mitochondrial complex IV deficiency, nuclear type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388646 SCV000439301 uncertain significance Fatal Infantile Cardioencephalomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289696 SCV000439302 uncertain significance Mitochondrial DNA depletion syndrome 1 2016-06-14 criteria provided, single submitter clinical testing

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