ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.1662C>T (p.Cys554=)

gnomAD frequency: 0.00120  dbSNP: rs143055766
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873399 SCV001015384 benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2023-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983231 SCV004796623 likely benign GLI2-related disorder 2019-05-01 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).
Breakthrough Genomics, Breakthrough Genomics RCV004708994 SCV005242689 benign not provided criteria provided, single submitter not provided

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