Submissions for variant NM_001374353.1(GLI2):c.1260C>T (p.Thr420=)

gnomAD frequency: 0.00010  dbSNP: rs200497671

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002540032	SCV001020717	benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2022-11-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001128706	SCV001288192	benign	Holoprosencephaly 9	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV003438544	SCV004149097	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	GLI2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003938384	SCV004754950	benign	GLI2-related disorder	2019-06-28	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).