ClinVar Miner

Submissions for variant NM_025152.2(NUBPL):c.[166G>A;815-27T>C]

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000000017 SCV000245520 pathogenic Mitochondrial complex I deficiency 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory in trans with a missense variant in an 18-year-old male with mitochondrial disease
OMIM RCV000735415 SCV000020160 pathogenic Mitochondrial complex 1 deficiency, nuclear type 21 2013-04-23 no assertion criteria provided literature only

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