Submissions for variant NM_000501.4(ELN):c.1232T>G (p.Val411Gly)

gnomAD frequency: 0.00073  dbSNP: rs200180992

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000364224	SCV000469900	benign	Supravalvar aortic stenosis	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.
Illumina Laboratory Services, Illumina	RCV000402483	SCV000469901	benign	Cutis laxa, autosomal dominant 1	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.
Invitae	RCV000364224	SCV001729549	benign	Supravalvar aortic stenosis	2024-01-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000864153	SCV001840175	benign	not provided	2021-01-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 11735026)
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000864153	SCV001807099	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000864153	SCV001928030	likely benign	not provided		no assertion criteria provided	clinical testing