Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000245032 | SCV000304532 | benign | not specified | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV000021442 | SCV000603154 | benign | X-linked Alport syndrome | 2021-01-04 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000245032 | SCV000705727 | benign | not specified | 2017-01-17 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000245032 | SCV000711419 | benign | not specified | 2017-09-25 | criteria provided, single submitter | clinical testing | c.2768-11A>G in intron 32A of COL4A5: This variant is not expected to have clini cal significance because it has been identified in 32.6% (8823/27099) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinsti tute.org/; dbSNP rs1006269). |
Invitae | RCV001515382 | SCV001723440 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000021442 | SCV001762630 | benign | X-linked Alport syndrome | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001515382 | SCV001890680 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing |