ClinVar Miner

Submissions for variant NM_001277061.2(MFF):c.190C>T (p.Gln64Ter) (rs397514615)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000033052 SCV000056832 pathogenic Encephalopathy due to defective mitochondrial and peroxisomal fission 2 2012-04-01 no assertion criteria provided literature only
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162157 SCV000196443 likely pathogenic Mitochondrial encephalomyopathy; Global developmental delay 2014-12-01 no assertion criteria provided research

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