ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3987C>T (p.Gly1329=)

gnomAD frequency: 0.00027  dbSNP: rs145859702
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501027 SCV000594987 likely benign not specified 2016-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000558382 SCV000630799 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2025-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001567055 SCV001790674 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001567055 SCV004156793 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing GLI3: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004535593 SCV004742534 likely benign GLI3-related disorder 2020-05-29 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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