ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) (rs118169528)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611609 SCV000730302 benign not specified 2017-05-12 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.
Illumina Clinical Services Laboratory,Illumina RCV000236220 SCV000382017 likely benign Propionyl-CoA carboxylase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000236220 SCV000256849 pathogenic Propionyl-CoA carboxylase deficiency 2012-01-01 criteria provided, single submitter research
Invitae RCV000236220 SCV000631900 benign Propionyl-CoA carboxylase deficiency 2016-09-29 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000236220 SCV000267435 uncertain significance Propionyl-CoA carboxylase deficiency 2016-03-18 criteria provided, single submitter reference population

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