ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.*1857A>C (rs774099916)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000398521 SCV000466317 uncertain significance Pyruvate dehydrogenase complex deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313976 SCV000466318 uncertain significance Maple syrup urine disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352477 SCV000466319 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing

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