ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.7011T>C (p.Asp2337=)

gnomAD frequency: 0.00016  dbSNP: rs138506849
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147186 SCV000194552 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV002055915 SCV002400134 likely benign not provided 2024-01-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917452 SCV004729709 likely benign PCNT-related condition 2023-01-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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