ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA (rs59957960)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147182 SCV000194548 benign not specified 2014-04-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400999 SCV000437063 benign Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000606692 SCV000745100 benign Microcephalic osteodysplastic primordial dwarfism type II 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV000948109 SCV001094304 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000606692 SCV000734111 benign Microcephalic osteodysplastic primordial dwarfism type II no assertion criteria provided clinical testing

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