ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3286G>A (p.Val1096Met)

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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 RCV002967680 SCV003287291 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2022-08-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005045126 SCV005666578 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2024-03-22 criteria provided, single submitter clinical testing

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