ClinVar Miner

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

gnomAD frequency: 0.02593  dbSNP: rs3739205
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Total submissions: 8
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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
Invitae RCV000475072 SCV000560527 benign Developmental and epileptic encephalopathy, 12 2024-02-01 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

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