Submissions for variant NM_032575.3(GLIS2):c.1259C>T (p.Pro420Leu)

gnomAD frequency: 0.00923  dbSNP: rs75495782

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000203750	SCV000260372	benign	Nephronophthisis	2025-01-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094257	SCV000396936	benign	Nephronophthisis 7	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.
GeneDx	RCV001706191	SCV001875165	likely benign	not provided	2024-03-25	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Genetic Services Laboratory, University of Chicago	RCV001818499	SCV002070257	benign	not specified	2021-06-28	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001706191	SCV005217382	likely benign	not provided		criteria provided, single submitter	not provided