ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.7914-16C>T

gnomAD frequency: 0.67468  dbSNP: rs2839257
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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) RCV000147217 SCV000229877 benign not specified 2014-11-23 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000613595 SCV000745101 benign Microcephalic osteodysplastic primordial dwarfism type II 2017-05-31 criteria provided, single submitter clinical testing
GeneDx RCV001540816 SCV001758743 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000613595 SCV002029460 benign Microcephalic osteodysplastic primordial dwarfism type II 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV001540816 SCV002346349 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147217 SCV000194584 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000613595 SCV000734112 benign Microcephalic osteodysplastic primordial dwarfism type II no assertion criteria provided clinical testing

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