Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078373 | SCV000110219 | benign | not specified | 2012-07-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586922 | SCV000695967 | benign | not provided | 2016-01-15 | criteria provided, single submitter | clinical testing | Variant summary: The c.1190-10dupC variant affects a intronic polyC site. One in-silico tool predicts benign outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing. This variant is found in 1655/7502 control chromosomes (116 homozygotes) at a frequency of 0.2206078, which is about 82 times of maximal expected frequency of a pathogenic allele (0.0026926), suggesting this variant is benign. In addition, one clinical laboratory classified this variant as bengin. Taken together, this variant was classified as benign. |
Invitae | RCV001276018 | SCV001723771 | benign | Mucopolysaccharidosis type 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000586922 | SCV001753819 | benign | not provided | 2018-09-17 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000586922 | SCV000801307 | benign | not provided | 2016-02-02 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001276018 | SCV001461762 | benign | Mucopolysaccharidosis type 1 | 2020-09-16 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000078373 | SCV001920488 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000078373 | SCV001955468 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000078373 | SCV001965174 | benign | not specified | no assertion criteria provided | clinical testing |