ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.552A>G (p.Val184=)

gnomAD frequency: 0.00004  dbSNP: rs746213747
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001342996 SCV001536950 likely benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2023-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001712893 SCV001940749 likely benign not provided 2020-10-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001712893 SCV004185368 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing MTO1: BP4, BP7

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