ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.6564_6565del (p.Met2188fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV003237399 SCV003936049 likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2020-05-05 criteria provided, single submitter clinical testing

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