ClinVar Miner

Submissions for variant NM_014669.5(NUP93):c.999C>T (p.Ala333=)

dbSNP: rs188243427
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002115972 SCV002405382 benign not provided 2023-11-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002115972 SCV005292588 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003958738 SCV004775762 likely benign NUP93-related disorder 2021-12-29 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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