Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587360 | SCV000697782 | benign | not provided | 2016-04-26 | criteria provided, single submitter | clinical testing | Variant summary: The c.293-20C>T variant affects a non-conserved intronic nucleotide. Mutation taster predicts benign outcome for this variant. 4/5 programs in Alamut predict that this variant does not affect normal splicing. This variant is found in 1712/113572 control chromosomes (17 homozygotes) at a frequency of 0.0150741, which is about 24119 times of the maximal expected frequency of a pathogenic allele (0.0000006), suggesting this variant is benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as Benign. |
ARUP Laboratories, |
RCV000587360 | SCV001159502 | benign | not provided | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000587360 | SCV001871658 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000587360 | SCV002350963 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003126836 | SCV003801974 | benign | Seckel syndrome 1 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003126837 | SCV003801975 | benign | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2023-02-08 | criteria provided, single submitter | clinical testing |