ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.3549C>T (p.Ile1183=)

gnomAD frequency: 0.00058  dbSNP: rs139383288
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175319 SCV000226790 uncertain significance not provided 2015-04-22 criteria provided, single submitter clinical testing
Invitae RCV000175319 SCV002378187 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133161 SCV003814771 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2020-06-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907566 SCV004719730 likely benign PCNT-related condition 2021-07-08 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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