Submissions for variant NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=)

gnomAD frequency: 0.00073  dbSNP: rs149290823

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000264664	SCV000333555	likely benign	not specified	2017-05-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000406286	SCV000416227	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV001088889	SCV001014730	benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000872847	SCV001152394	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	GLI2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003909928	SCV004724465	benign	GLI2-related condition	2023-06-22	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).