ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8752-5A>C (rs149444205)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000613080 SCV000745105 benign Microcephalic osteodysplastic primordial dwarfism type 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000613080 SCV000734115 likely benign Microcephalic osteodysplastic primordial dwarfism type 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081359 SCV000113290 benign not specified 2013-05-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081359 SCV000194596 benign not specified 2015-09-21 criteria provided, single submitter clinical testing

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