ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2039G>A (p.Ser680Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005047959 SCV005668788 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2024-02-10 criteria provided, single submitter clinical testing

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