Submissions for variant NM_001374353.1(GLI2):c.801G>A (p.Ser267=)

gnomAD frequency: 0.82634  dbSNP: rs2592595

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247010	SCV000310993	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000346541	SCV000416183	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520375	SCV001729450	benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001640536	SCV001857163	benign	not provided	2018-11-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701822	SCV001933819	benign	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000346541	SCV001933820	benign	Holoprosencephaly 9	2021-08-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001640536	SCV005242676	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000247010	SCV001920998	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000247010	SCV001962876	benign	not specified		no assertion criteria provided	clinical testing