ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val) (rs370664761)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726003 SCV000341158 uncertain significance not provided 2016-06-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000286792 SCV000596296 uncertain significance not specified 2016-04-27 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765510 SCV000896816 uncertain significance Microcephalic osteodysplastic primordial dwarfism type 2 2018-10-31 criteria provided, single submitter clinical testing

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