ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1129+246G>A

gnomAD frequency: 0.00049  dbSNP: rs118010902
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791147 SCV000930421 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2019-04-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000791147 SCV002787998 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-02-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692237 SCV005189112 uncertain significance not provided criteria provided, single submitter not provided

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