ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2881G>A (p.Gly961Arg)

gnomAD frequency: 0.00001  dbSNP: rs745986297
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762451 SCV000892773 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493394 SCV002798281 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2022-02-07 criteria provided, single submitter clinical testing

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