ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.199G>A (p.Gly67Arg)

gnomAD frequency: 0.00003  dbSNP: rs374123528
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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 RCV001365816 SCV001562099 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2021-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488130 SCV002802122 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2022-05-31 criteria provided, single submitter clinical testing

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