ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) (rs113591604)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723913 SCV000230692 uncertain significance not provided 2015-04-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000178581 SCV000596337 uncertain significance not specified 2016-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000723913 SCV000982802 likely benign not provided 2018-03-27 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.
Invitae RCV000723913 SCV001110353 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002082 SCV001159926 likely benign Microcephalic osteodysplastic primordial dwarfism type II 2019-02-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001002082 SCV001298975 likely benign Microcephalic osteodysplastic primordial dwarfism type II 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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