Submissions for variant NM_006031.6(PCNT):c.721-7G>A

gnomAD frequency: 0.32249  dbSNP: rs2839217

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147195	SCV000194562	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147195	SCV000341735	benign	not specified	2016-05-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000608754	SCV000436944	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	RCV000608754	SCV000745089	benign	Microcephalic osteodysplastic primordial dwarfism type II	2017-05-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001711409	SCV001944082	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000608754	SCV002029451	benign	Microcephalic osteodysplastic primordial dwarfism type II	2021-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001711409	SCV002401928	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711409	SCV005276680	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000608754	SCV000734100	benign	Microcephalic osteodysplastic primordial dwarfism type II		no assertion criteria provided	clinical testing