Submissions for variant NM_000501.4(ELN):c.1269C>T (p.Val423=)

dbSNP: rs61734583

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176049	SCV000227642	benign	not specified	2015-04-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000315621	SCV000469908	benign	Cutis laxa, autosomal dominant 1	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.
Illumina Laboratory Services, Illumina	RCV000388850	SCV000469909	benign	Supravalvar aortic stenosis	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.
Invitae	RCV000388850	SCV000748720	benign	Supravalvar aortic stenosis	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001579854	SCV001873747	likely benign	not provided	2020-11-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579854	SCV004042300	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	ELN: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579854	SCV001808757	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579854	SCV001973182	likely benign	not provided		no assertion criteria provided	clinical testing