ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.5634C>T (p.Asp1878=) (rs61735811)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081355 SCV000113286 benign not specified 2013-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000081355 SCV000170933 benign not specified 2014-03-31 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 RCV000081355 SCV000194514 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299490 SCV000437021 likely benign Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 criteria provided, single submitter clinical testing

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