ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.672G>A (p.Thr224=)

gnomAD frequency: 0.00006  dbSNP: rs147049153
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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 RCV000882166 SCV001025391 likely benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2022-10-13 criteria provided, single submitter clinical testing

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