Submissions for variant NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val)

gnomAD frequency: 0.00970  dbSNP: rs149140724

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174552	SCV000225870	benign	not specified	2015-02-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000174552	SCV000310983	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000306876	SCV000416228	benign	Holoprosencephaly 9	2018-01-12	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.
Invitae	RCV000544550	SCV000655232	benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001573006	SCV001830055	benign	not provided	2020-07-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29165578, 24744436)
CeGaT Center for Human Genetics Tuebingen	RCV001573006	SCV004149119	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	GLI2: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573006	SCV001798260	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001573006	SCV001918000	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000174552	SCV001958496	benign	not specified		no assertion criteria provided	clinical testing