Submissions for variant NM_007254.4(PNKP):c.1189-10del

gnomAD frequency: 0.02593  dbSNP: rs3739205

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081503	SCV000113434	benign	not specified	2017-07-21	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081503	SCV000194719	benign	not specified	2013-04-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001704003	SCV000242027	benign	not provided	2018-06-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081503	SCV000311775	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000268050	SCV000414344	likely benign	Epileptic encephalopathy	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000475072	SCV000560527	benign	Developmental and epileptic encephalopathy, 12	2025-02-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625157	SCV000743932	benign	Microcephaly, seizures, and developmental delay	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625157	SCV000745392	benign	Microcephaly, seizures, and developmental delay	2015-09-21	criteria provided, single submitter	clinical testing