ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.606C>T (p.Ser202=)

gnomAD frequency: 0.00004  dbSNP: rs146181686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733772 SCV000861869 uncertain significance not provided 2018-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067157 SCV002475953 likely benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2023-09-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975290 SCV004790271 likely benign GLI2-related disorder 2019-04-29 no assertion criteria provided 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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