ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.565C>T (p.Pro189Ser)

gnomAD frequency: 0.00018  dbSNP: rs201940674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002064776 SCV002440652 likely benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2022-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000874730 SCV002545510 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing GLI3: BS1

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