ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs)

dbSNP: rs2063245185
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab,Baylor College of Medicine RCV001269298 SCV001448645 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2020-11-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001269298 SCV001525902 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2018-12-15 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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