ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.935-146G>C

gnomAD frequency: 0.13601  dbSNP: rs6445980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000835567 SCV000977360 benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Pars Genome Lab RCV001527578 SCV001738675 benign Pyruvate dehydrogenase E1-beta deficiency 2021-06-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000835567 SCV005306709 benign not provided criteria provided, single submitter not provided

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