ClinVar Miner

Submissions for variant NM_017819.4(TRMT10C):c.814A>G (p.Thr272Ala)

dbSNP: rs875989831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wellcome Centre for Mitochondrial Research, Newcastle University RCV000754101 SCV000264780 pathogenic Mitochondrial disease 2016-03-08 no assertion criteria provided clinical testing
OMIM RCV000225275 SCV000282034 pathogenic Combined oxidative phosphorylation defect type 30 2019-09-10 no assertion criteria provided literature only

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