ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.998_1008+20dup

dbSNP: rs2063233544
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197847 SCV001368627 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2019-03-26 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,BP4. This variant was detected in hemizygous state.

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