Submissions for variant NM_006031.6(PCNT):c.2556T>C (p.Ala852=)

gnomAD frequency: 0.88316  dbSNP: rs8131546

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147097	SCV000194457	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000608662	SCV000436967	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	RCV000608662	SCV000745092	benign	Microcephalic osteodysplastic primordial dwarfism type II	2017-06-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001657839	SCV001871779	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000608662	SCV002029454	benign	Microcephalic osteodysplastic primordial dwarfism type II	2021-09-05	criteria provided, single submitter	clinical testing
Invitae	RCV001657839	SCV002424709	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003982902	SCV004799710	benign	PCNT-related condition	2024-01-24	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000608662	SCV000734103	benign	Microcephalic osteodysplastic primordial dwarfism type II		no assertion criteria provided	clinical testing