ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.398del (p.Phe133fs)

dbSNP: rs1131691484
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493188 SCV000582211 pathogenic not provided 2020-08-31 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261590 SCV001438860 pathogenic Microcephalic osteodysplastic primordial dwarfism type II criteria provided, single submitter clinical testing
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV001261590 SCV003936046 likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2020-04-30 criteria provided, single submitter clinical testing

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