ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4007_4009delinsAGT (p.Gly1336_Ala1337delinsGluSer)

dbSNP: rs1562657448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005036038 SCV005666545 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2024-05-16 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000723114 SCV000854245 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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