ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.*167T>C (rs886061909)

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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 RCV000404165 SCV000466260 uncertain significance Pyruvate dehydrogenase complex deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307241 SCV000466261 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364131 SCV000466262 uncertain significance Maple syrup urine disease 2016-06-14 criteria provided, single submitter clinical testing

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