ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.1542C>A (p.Ser514=)

dbSNP: rs2249057
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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 RCV000147090 SCV000194450 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000616137 SCV000436957 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000616137 SCV000745090 benign Microcephalic osteodysplastic primordial dwarfism type II 2017-06-28 criteria provided, single submitter clinical testing
GeneDx RCV001598628 SCV001827751 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000616137 SCV002029452 benign Microcephalic osteodysplastic primordial dwarfism type II 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV001598628 SCV002410252 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000616137 SCV000734101 benign Microcephalic osteodysplastic primordial dwarfism type II no assertion criteria provided clinical testing

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