ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala)

gnomAD frequency: 0.00833  dbSNP: rs9981448
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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 RCV000147172 SCV000194538 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001001708 SCV000437050 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000894497 SCV001038483 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001708 SCV001159285 benign Microcephalic osteodysplastic primordial dwarfism type II 2023-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000894497 SCV001914964 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001001708 SCV002794567 likely benign Microcephalic osteodysplastic primordial dwarfism type II 2021-09-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000894497 SCV005276748 benign not provided criteria provided, single submitter not provided

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