ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.1680-2A>G

dbSNP: rs1555954786
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499620 SCV000596356 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2016-06-20 criteria provided, single submitter clinical testing

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