ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) (rs139432601)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147126 SCV000194486 likely benign not specified 2015-05-13 criteria provided, single submitter clinical testing
GeneDx RCV000147126 SCV000514057 benign not specified 2017-02-22 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147126 SCV000707530 likely benign not specified 2017-04-13 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000605004 SCV000745097 likely benign Microcephalic osteodysplastic primordial dwarfism type II 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000972613 SCV001120335 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000605004 SCV001302910 likely benign Microcephalic osteodysplastic primordial dwarfism type II 2018-01-12 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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000605004 SCV000734108 likely benign Microcephalic osteodysplastic primordial dwarfism type II no assertion criteria provided clinical testing

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