ClinVar Miner

Submissions for variant NM_005269.3(GLI1):c.2798G>A (p.Gly933Asp)

gnomAD frequency: 0.47688  dbSNP: rs2228224
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001643411 SCV001857976 benign not provided 2020-02-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21085059)
Genome-Nilou Lab RCV001702940 SCV001933808 benign Polydactyly, postaxial, type A8 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703141 SCV001933809 benign Polydactyly of a biphalangeal thumb 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001643411 SCV005235433 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003984018 SCV004796364 benign GLI1-related disorder 2019-08-30 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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