ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.962C>T (p.Pro321Leu)

dbSNP: rs1576955015
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791114 SCV000930388 uncertain significance Pyruvate dehydrogenase E1-beta deficiency 2019-04-27 criteria provided, single submitter clinical testing

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