ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.252C>T (p.Ile84=)

gnomAD frequency: 0.00002  dbSNP: rs374384468
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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 RCV000471123 SCV000558980 likely benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2023-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000610487 SCV000723200 likely benign not specified 2017-10-03 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.

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