Submissions for variant NM_014425.5(INVS):c.3017-5T>G

gnomAD frequency: 0.00177  dbSNP: rs201018893

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245511	SCV000312186	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000531035	SCV000636132	benign	Nephronophthisis	2024-01-31	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625267	SCV000744363	likely benign	Infantile nephronophthisis	2017-06-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625267	SCV001328842	likely benign	Infantile nephronophthisis	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.
Clinical Genetics, Academic Medical Center	RCV000245511	SCV001919168	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001795458	SCV002034286	likely benign	not provided		no assertion criteria provided	clinical testing