ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3864G>A (p.Gly1288=)

gnomAD frequency: 0.00002  dbSNP: rs369272004
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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 RCV001997867 SCV002251206 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497899 SCV002796166 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2021-12-16 criteria provided, single submitter clinical testing

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