Submissions for variant NM_007254.4(PNKP):c.1286_1298+6dup

dbSNP: rs760249644

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001705033	SCV000242088	likely benign	not provided	2020-09-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000188474	SCV000596485	likely benign	not specified	2019-03-18	criteria provided, single submitter	clinical testing
Invitae	RCV000528550	SCV000660389	likely benign	Developmental and epileptic encephalopathy, 12	2024-01-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000188474	SCV000855682	likely benign	not specified	2017-07-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381635	SCV002689391	likely benign	Inborn genetic diseases	2018-02-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001705033	SCV004140473	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	PNKP: PP3, BS2
PreventionGenetics, part of Exact Sciences	RCV003927744	SCV004738025	benign	PNKP-related condition	2019-07-01	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).