ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.720+17T>C

gnomAD frequency: 0.67221  dbSNP: rs9982233
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081358 SCV000113289 benign not specified 2013-07-03 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000603864 SCV000745088 benign Microcephalic osteodysplastic primordial dwarfism type II 2017-05-31 criteria provided, single submitter clinical testing
GeneDx RCV001664380 SCV001873105 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000603864 SCV002029450 benign Microcephalic osteodysplastic primordial dwarfism type II 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV001664380 SCV002485288 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081358 SCV000194560 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000603864 SCV000734099 benign Microcephalic osteodysplastic primordial dwarfism type II no assertion criteria provided clinical testing

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