ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His)

gnomAD frequency: 0.00059  dbSNP: rs138987487
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174546 SCV000225864 benign not specified 2015-04-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001136006 SCV001295824 likely benign Holoprosencephaly 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002056922 SCV002340964 likely benign Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2023-10-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430724 SCV004149127 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing GLI2: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV003430724 SCV005262759 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003965257 SCV004782638 likely benign GLI2-related disorder 2024-02-12 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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