ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.919G>A (p.Glu307Lys)

dbSNP: rs138469662
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660442 SCV000782534 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2016-11-28 criteria provided, single submitter clinical testing

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