ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.196G>T (p.Gly66Ter)

dbSNP: rs587779355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171352 SCV000221549 likely pathogenic not provided criteria provided, single submitter research
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000115045 SCV000108550 pathogenic Microcephalic osteodysplastic primordial dwarfism type II flagged submission research

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