Submissions for variant NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met)

gnomAD frequency: 0.00099  dbSNP: rs142775128

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Paul Sabatier University EA-4555, Paul Sabatier University	RCV000207367	SCV000259151	likely benign	Anophthalmia-microphthalmia syndrome	2013-01-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000309933	SCV000332906	benign	not specified	2015-07-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263942	SCV000416193	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.
GeneDx	RCV001705180	SCV000513157	likely benign	not provided	2021-02-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26893459)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000873686	SCV001015729	benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2024-01-19	criteria provided, single submitter	clinical testing
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation	RCV003224225	SCV003920693	uncertain significance	Bardet-Biedl syndrome		criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV001705180	SCV005262741	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000309933	SCV001920566	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000309933	SCV001968639	benign	not specified		no assertion criteria provided	clinical testing