Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214534 | SCV000270077 | likely benign | not specified | 2015-02-27 | criteria provided, single submitter | clinical testing | p.Gly688Gly in exon 25 of COL11A2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, and it is not loc ated within the splice consensus sequence. It has been identified in 16/51320 E uropean chromosomes and 4/7254 African chromosomes by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org; dbSNP rs148092088). |
Gene |
RCV001697216 | SCV000534897 | likely benign | not provided | 2021-03-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001697216 | SCV002436078 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000214534 | SCV004813350 | likely benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |