ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu)

dbSNP: rs373926115
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000416503 SCV000494439 uncertain significance Global developmental delay; Macrocephaly; Functional motor deficit; Generalized dystonia 2016-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266646 SCV001444822 uncertain significance Inborn genetic diseases 2019-09-04 criteria provided, single submitter clinical testing
GeneDx RCV002469146 SCV002765849 uncertain significance not provided 2022-12-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002502450 SCV002786858 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2021-10-06 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255817 SCV001432436 likely benign Greig cephalopolysyndactyly syndrome no assertion criteria provided clinical testing

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