ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup) (rs587784306)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194880 SCV000248474 likely benign not specified 2015-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000194880 SCV000569411 likely benign not specified 2017-04-17 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.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625368 SCV000745086 likely benign Microcephalic osteodysplastic primordial dwarfism type II 2017-02-22 criteria provided, single submitter clinical testing
Invitae RCV000951354 SCV001097747 benign not provided 2018-02-17 criteria provided, single submitter clinical testing

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