ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu)

gnomAD frequency: 0.00106  dbSNP: rs556743028
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224873 SCV000280804 likely benign not provided 2016-04-25 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001078823 SCV001021913 likely benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2023-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001078823 SCV002811811 likely benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2022-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947734 SCV004765066 likely benign GLI2-related condition 2019-10-02 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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