ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) (rs33956783)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147225 SCV000170921 benign not specified 2014-02-04 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.
Genetic Services Laboratory, University of Chicago RCV000147225 SCV000194592 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285679 SCV000437098 uncertain significance Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000430424 SCV000511054 likely benign not provided 2016-12-01 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147225 SCV000702455 benign not specified 2016-11-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625075 SCV000743695 likely benign Microcephalic osteodysplastic primordial dwarfism type 2 2015-10-08 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625075 SCV000745104 likely benign Microcephalic osteodysplastic primordial dwarfism type 2 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV000430424 SCV001099320 benign not provided 2017-11-27 criteria provided, single submitter clinical testing

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