ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1232C>T (p.Thr411Ile)

dbSNP: rs398122419
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000074507 SCV000108592 pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2013-11-01 no assertion criteria provided literature only

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