Submissions for variant NM_006031.6(PCNT):c.9623+8C>T

gnomAD frequency: 0.00388  dbSNP: rs75758339

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147247	SCV000194617	likely benign	not specified	2015-08-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000147247	SCV000514073	likely benign	not specified	2017-10-10	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.
Invitae	RCV002055918	SCV002448566	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003611497	SCV004563030	benign	Microcephalic osteodysplastic primordial dwarfism type II	2023-09-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965108	SCV004793299	benign	PCNT-related condition	2021-08-10	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).