Submissions for variant NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro)

gnomAD frequency: 0.00352  dbSNP: rs144372453

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174544	SCV000225862	benign	not specified	2015-02-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000174544	SCV000310987	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000030728	SCV000416240	likely benign	Holoprosencephaly 9	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000174544	SCV000864343	likely benign	not specified	2017-05-15	criteria provided, single submitter	clinical testing	BS1, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000871994	SCV001013739	benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2023-11-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000871994	SCV002809090	likely benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2021-12-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001698948	SCV005074620	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	GLI2: BP4, BS1, BS2
OMIM	RCV000030728	SCV000053389	pathogenic	Holoprosencephaly 9	2012-01-01	no assertion criteria provided	literature only
Clinical Genetics, Academic Medical Center	RCV001698948	SCV001925115	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001698948	SCV001962967	likely benign	not provided		no assertion criteria provided	clinical testing