ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1992G>A (p.Ser664=)

gnomAD frequency: 0.00006  dbSNP: rs770030848
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816681 SCV000957199 benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-07-07 criteria provided, single submitter clinical testing

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