ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1059A>G (p.Leu353=)

dbSNP: rs201656868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611658 SCV000729059 likely benign not specified 2017-10-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001511164 SCV001718361 benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424186 SCV004159740 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing MTO1: BP4, BP7

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