ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8988C>T (p.Ala2996=)

gnomAD frequency: 0.02642  dbSNP: rs61735826
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081361 SCV000113292 benign not specified 2013-11-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081361 SCV000194606 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000314687 SCV000437104 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.
GeneDx RCV001668203 SCV001887903 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV001668203 SCV002476425 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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