ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.1975dup (p.Asp659fs)

dbSNP: rs1555956600
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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 RCV000501524 SCV000596360 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2016-08-30 criteria provided, single submitter clinical testing

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