ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) (rs119479061)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004968 SCV000025144 pathogenic Microcephalic osteodysplastic primordial dwarfism type 2 2008-02-01 no assertion criteria provided literature only

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