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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171352 SCV000221549 likely pathogenic not provided criteria provided, single submitter research
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000115045 SCV000108550 pathogenic Microcephalic osteodysplastic primordial dwarfism type II flagged submission research

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