ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.2211G>T (p.Arg737=)

gnomAD frequency: 0.00317  dbSNP: rs142856393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003891934 SCV000310971 benign GLI2-related disorder 2019-07-02 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Labcorp Genetics (formerly Invitae), Labcorp RCV000872584 SCV001014419 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2023-12-19 criteria provided, single submitter clinical testing

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