ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.7914-16C>T (rs2839257)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147217 SCV000229877 benign not specified 2014-11-23 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000613595 SCV000745101 benign Microcephalic osteodysplastic primordial dwarfism type 2 2017-05-31 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 2 no assertion criteria provided clinical testing

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