ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1466-11C>T

gnomAD frequency: 0.00001  dbSNP: rs1177539865
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002159107 SCV002473389 likely benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2021-10-09 criteria provided, single submitter clinical testing

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