ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.793-19_793-14del

dbSNP: rs759146810
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000337109 SCV000445818 uncertain significance Pyruvate dehydrogenase complex deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV003626614 SCV004559030 likely benign Pyruvate dehydrogenase E1-beta deficiency 2023-11-15 criteria provided, single submitter clinical testing

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