ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.1439T>C (p.Ile480Thr)

gnomAD frequency: 0.00002  dbSNP: rs140260331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332192 SCV001524434 uncertain significance Pyruvate dehydrogenase E3 deficiency 2019-08-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Breakthrough Genomics, Breakthrough Genomics RCV004692555 SCV005195591 uncertain significance not provided criteria provided, single submitter not provided

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