ClinVar Miner

Submissions for variant NM_016553.5(NUP62):c.192C>T (p.Thr64=)

gnomAD frequency: 0.00228  dbSNP: rs145084636
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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 RCV000194217 SCV000248362 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000955042 SCV001101721 benign not provided 2023-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937703 SCV004749848 likely benign NUP62-related disorder 2019-06-26 no assertion criteria provided 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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