ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4560G>A (p.Ser1520=)

gnomAD frequency: 0.00002  dbSNP: rs79625212
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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) RCV000265139 SCV000340611 uncertain significance not provided 2016-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519273 SCV001091415 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2022-02-08 criteria provided, single submitter clinical testing

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