ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu)

dbSNP: rs144128064
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001906603 SCV002171643 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-10-09 criteria provided, single submitter clinical testing
GeneDx RCV002253991 SCV002525401 uncertain significance not provided 2021-11-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002478339 SCV002780439 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2021-12-13 criteria provided, single submitter clinical testing

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