ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) (rs59183158)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000609273 SCV000745085 likely benign Microcephalic osteodysplastic primordial dwarfism type 2 2016-10-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000609273 SCV000734097 likely benign Microcephalic osteodysplastic primordial dwarfism type 2 no assertion criteria provided clinical testing

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