Submissions for variant NM_001042413.2(GLIS3):c.1545G>C (p.Glu515Asp)

gnomAD frequency: 0.00304  dbSNP: rs72687988

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177409	SCV000229264	likely benign	not specified	2015-05-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000177409	SCV000306230	likely benign	not specified		criteria provided, single submitter	clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000177409	SCV000864305	likely benign	not specified	2017-08-28	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	RCV000886290	SCV001029790	likely benign	not provided	2025-01-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001166315	SCV001328683	likely benign	Neonatal diabetes mellitus with congenital hypothyroidism	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.
GeneDx	RCV000886290	SCV001771699	likely benign	not provided	2021-02-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28444304)
CeGaT Center for Human Genetics Tuebingen	RCV000886290	SCV002063226	likely benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	GLIS3: BS1
Breakthrough Genomics, Breakthrough Genomics	RCV000886290	SCV005225317	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000886290	SCV001800725	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000886290	SCV001925037	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000886290	SCV001926314	likely benign	not provided		no assertion criteria provided	clinical testing