ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4709C>T (p.Ala1570Val)

dbSNP: rs41305933
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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 RCV001055857 SCV001220269 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2021-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482006 SCV002783783 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2024-03-18 criteria provided, single submitter clinical testing

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