ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.387+6T>C

gnomAD frequency: 0.00001  dbSNP: rs1064797119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487829 SCV000574788 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Houlden Lab, UCL Institute of Neurology RCV003315432 SCV003035499 likely pathogenic Combined oxidative phosphorylation defect type 21 no assertion criteria provided research
OMIM RCV003315432 SCV004808377 pathogenic Combined oxidative phosphorylation defect type 21 2024-04-01 no assertion criteria provided literature only

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