ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.97del (p.Arg33fs)

dbSNP: rs1582666067
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791146 SCV000930420 pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2019-04-27 criteria provided, single submitter clinical testing

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