ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met) (rs60078675)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001001877 SCV000437106 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.
Invitae RCV000972985 SCV001120718 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001877 SCV001159601 benign Microcephalic osteodysplastic primordial dwarfism type II 2019-06-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147238 SCV000194608 likely benign not specified no assertion criteria provided clinical testing

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