Submissions for variant NM_025099.6(CTC1):c.435+3=

gnomAD frequency: 0.99999  dbSNP: rs6503093

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251963	SCV000314509	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263348	SCV000407620	benign	Dyskeratosis congenita	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000251963	SCV000603233	benign	not specified	2016-08-08	criteria provided, single submitter	clinical testing
Invitae	RCV000263348	SCV001721722	benign	Dyskeratosis congenita	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001651253	SCV001869024	benign	not provided	2018-11-28	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000251963	SCV001740760	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000251963	SCV001958076	benign	not specified		no assertion criteria provided	clinical testing