ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.96C>T (p.Pro32=)

gnomAD frequency: 0.00001  dbSNP: rs938648582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614199 SCV000724861 likely benign not specified 2017-11-27 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 RCV003117402 SCV003789296 likely benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-06-10 criteria provided, single submitter clinical testing

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