ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1137T>C (p.Gly379=)

gnomAD frequency: 0.00016  dbSNP: rs141477592
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Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001470940 SCV001675040 likely benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2023-08-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726564 SCV001961975 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing MTO1: BP4, BP7

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