ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3351G>A (p.Pro1117=)

gnomAD frequency: 0.00005  dbSNP: rs368061722
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513484 SCV000609258 likely benign not provided 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV001413484 SCV001615600 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-10-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942669 SCV004757351 likely benign GLI3-related condition 2021-08-02 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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