ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8830_8832del (p.Lys2944del)

dbSNP: rs562568796
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000301127 SCV000437101 uncertain significance Microcephalic osteodysplastic primordial dwarfism 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000884347 SCV001027720 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000884347 SCV001985923 uncertain significance not provided 2019-10-25 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 1 amino acid in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003950183 SCV004757539 benign PCNT-related disorder 2022-10-04 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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