ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3823G>A (p.Gly1275Arg)

gnomAD frequency: 0.00002  dbSNP: rs756156901
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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 RCV000534571 SCV000630800 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2022-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497080 SCV002783694 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2021-07-07 criteria provided, single submitter clinical testing

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