ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.344del (p.Asn115fs)

dbSNP: rs1297994959
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University RCV001290401 SCV001478081 likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency no assertion criteria provided clinical testing

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