ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1827A>G (p.Gln609=)

dbSNP: rs1554150837
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549675 SCV000652645 likely benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2017-05-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424133 SCV004159742 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing MTO1: PM2:Supporting, BP4, BP7

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