Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
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- |
RCV003126838 | SCV003801597 | benign | Seckel syndrome 1 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003126839 | SCV003801598 | benign | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2023-02-08 | criteria provided, single submitter | clinical testing |