ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.791_792del (p.Glu264fs)

dbSNP: rs1569191879
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SingHealth Duke-NUS Institute of Precision Medicine RCV000721985 SCV000853140 likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2017-06-07 no assertion criteria provided curation

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