ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.367+20G>A

gnomAD frequency: 0.00011  dbSNP: rs371365628
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002115582 SCV002400416 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-12-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486888 SCV002795706 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2022-01-22 criteria provided, single submitter clinical testing

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