ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg)

gnomAD frequency: 0.00004  dbSNP: rs543636524
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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 RCV001344236 SCV001538276 benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2024-05-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493764 SCV002803220 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2021-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003263980 SCV003953855 likely benign Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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