ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4141del (p.Arg1381fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719590 SCV005326005 pathogenic not provided 2023-07-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 200 amino acids are replaced with 37 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25869409, 24667698)

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