ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.-20G>A (rs374941593)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000381820 SCV000382005 likely benign Propionyl-CoA carboxylase deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000421667 SCV000533598 likely benign not specified 2017-07-27 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.

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