Submissions for variant NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val)

gnomAD frequency: 0.01548  dbSNP: rs12481791

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000147206	SCV000170915	benign	not specified	2014-03-31	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000147206	SCV000194573	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147206	SCV000229796	benign	not specified	2014-12-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001001726	SCV000437078	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001726	SCV001159316	benign	Microcephalic osteodysplastic primordial dwarfism type II	2023-11-07	criteria provided, single submitter	clinical testing
Invitae	RCV001573704	SCV002456653	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573704	SCV003916346	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PCNT: PP3, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573704	SCV001799968	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573704	SCV001973658	likely benign	not provided		no assertion criteria provided	clinical testing