Submissions for variant NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup)

dbSNP: rs587784306

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194880	SCV000248474	likely benign	not specified	2015-07-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000951354	SCV000569411	benign	not provided	2017-11-29	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625368	SCV000745086	likely benign	Microcephalic osteodysplastic primordial dwarfism type II	2017-02-22	criteria provided, single submitter	clinical testing
Invitae	RCV000951354	SCV001097747	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000625368	SCV002058091	benign	Microcephalic osteodysplastic primordial dwarfism type II	2023-11-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977522	SCV004798802	benign	PCNT-related condition	2021-09-28	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	RCV000951354	SCV001744855	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000951354	SCV001799837	likely benign	not provided		no assertion criteria provided	clinical testing
GeneDx	RCV000951354	SCV001885423	benign	not provided	2018-07-31	flagged submission	clinical testing