ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4619C>A (p.Thr1540Lys)

gnomAD frequency: 0.00004  dbSNP: rs748031460
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592798 SCV000703551 uncertain significance not provided 2016-11-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491190 SCV002790985 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2024-06-01 criteria provided, single submitter clinical testing

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