Submissions for variant NM_007254.4(PNKP):c.1127-8C>T

gnomAD frequency: 0.00901  dbSNP: rs3739203

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081502	SCV000113433	benign	not specified	2012-11-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000081502	SCV000171063	benign	not specified	2012-05-11	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	RCV000081502	SCV000194718	benign	not specified	2015-12-11	criteria provided, single submitter	clinical testing
Invitae	RCV001080233	SCV000289720	benign	Developmental and epileptic encephalopathy, 12	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000606811	SCV000414345	benign	Microcephaly, seizures, and developmental delay	2018-01-12	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.
Athena Diagnostics	RCV000710179	SCV000614681	benign	not provided	2018-01-26	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000606811	SCV000743933	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	RCV000606811	SCV000745393	benign	Microcephaly, seizures, and developmental delay	2017-05-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710179	SCV001151991	benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	PNKP: BP4, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000606811	SCV000733905	likely benign	Microcephaly, seizures, and developmental delay		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710179	SCV001799094	likely benign	not provided		no assertion criteria provided	clinical testing