ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs)

dbSNP: rs797045875
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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 RCV000193825 SCV000248456 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2013-03-05 criteria provided, single submitter clinical testing

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