ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2540G>A (p.Arg847Lys)

gnomAD frequency: 0.00002  dbSNP: rs143406263
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598483 SCV000702007 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000598483 SCV001982083 uncertain significance not provided 2021-09-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002491173 SCV002777873 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2022-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530989 SCV003242991 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2022-08-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000598483 SCV003816887 uncertain significance not provided 2021-11-30 criteria provided, single submitter clinical testing

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