Submissions for variant NM_001184.4(ATR):c.4153-10del

dbSNP: rs112116713

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000586487	SCV000697784	benign	not provided	2016-04-27	criteria provided, single submitter	clinical testing	Variant summary: The c.4153-10delT variant affects a non-conserved nucleotide, located in a polymorphic intronic position not widely known to affect splicing. Mutation taster predicts benign outcome for this variant along with 5/5 in silico tools predicting the variant not to have an impact on splicing. This variant is found in 6550/81728 control chromosomes at a frequency of 0.0801439, which is about 128230 times of the maximal expected frequency of a pathogenic allele (0.0000006), suggesting this variant is benign. The variant removes one T from a poly T (11 T bases in a row) area which is highly polymorphic in the general population further supporting a neutral impact. Considering all evidence, the variant was classified as Benign.
Invitae	RCV000586487	SCV001718784	benign	not provided	2023-11-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126838	SCV003801597	benign	Seckel syndrome 1	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126839	SCV003801598	benign	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	2023-02-08	criteria provided, single submitter	clinical testing