ClinVar Miner

Submissions for variant NM_152416.3(NDUFAF6):c.[328G>T];[611C>T]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000493222 SCV000580672 pathogenic Leigh syndrome 2017-01-06 no assertion criteria provided clinical testing The observed variant is not reported in 1000 genome database and is likely to be pathogenic by online software like Mutation taster and SIFT.

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