ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.192C>T (p.Leu64=)

gnomAD frequency: 0.00001  dbSNP: rs749354721
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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 RCV002216437 SCV002362223 likely benign Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-11-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707749 SCV005222192 likely benign not provided criteria provided, single submitter not provided

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