ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.1533C>T (p.Thr511=)

gnomAD frequency: 0.00075  dbSNP: rs137960978
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945514 SCV001091537 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960571 SCV004771102 likely benign GLI2-related disorder 2022-12-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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