Submissions for variant NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr)

gnomAD frequency: 0.03488  dbSNP: rs35044802

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147115	SCV000194475	benign	not specified	2013-08-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000272952	SCV000436983	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	RCV001573384	SCV001869524	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Invitae	RCV001573384	SCV002401665	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573384	SCV001799189	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000147115	SCV001968591	benign	not specified		no assertion criteria provided	clinical testing