ClinVar Miner

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

gnomAD frequency: 0.00901  dbSNP: rs3739203
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Total submissions: 11
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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 2024-03-01 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

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