ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.129A>C (p.Ala43=)

gnomAD frequency: 0.00094  dbSNP: rs201041526
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000876358 SCV001018921 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-01-13 criteria provided, single submitter clinical testing

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