ClinVar Miner

Submissions for variant NM_001257988.1(TYMP):c.1284T>A (p.Gly428=) (rs1138404)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126203 SCV000169698 benign not specified 2011-06-30 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.
PreventionGenetics,PreventionGenetics RCV000126203 SCV000308564 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360806 SCV000439309 benign Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403230 SCV000439310 benign Fatal Infantile Cardioencephalomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297818 SCV000439311 benign Mitochondrial DNA depletion syndrome 1 (MNGIE type) 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000676458 SCV000844820 benign not provided 2018-04-23 criteria provided, single submitter clinical testing
GeneReviews RCV000297818 SCV000264491 benign Mitochondrial DNA depletion syndrome 1 (MNGIE type) 2016-01-14 no assertion criteria provided literature only
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676458 SCV000802240 benign not provided 2016-02-23 no assertion criteria provided clinical testing

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