ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1028+3A>T

gnomAD frequency: 0.00021  dbSNP: rs368499795
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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 RCV001506252 SCV001711171 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-08-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819688 SCV002069893 uncertain significance not specified 2017-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536004 SCV004709458 likely benign GLI3-related disorder 2020-10-12 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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