Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218509 | SCV000268916 | benign | not specified | 2014-12-02 | criteria provided, single submitter | clinical testing | This is a RefSeq error. The reference base (c.4059T) is the minor allele. This a llele (T) has been identified in 1.5% (66/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs1516446) and thus meets criteria to be classified as benign. |
Ambry Genetics | RCV000244220 | SCV000319290 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2014-11-19 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001812219 | SCV000603130 | benign | not provided | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000218509 | SCV000705260 | benign | not specified | 2017-01-05 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986956 | SCV001136118 | benign | Ehlers-Danlos syndrome, type 4 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000986956 | SCV001733460 | benign | Ehlers-Danlos syndrome, type 4 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000986956 | SCV001821897 | benign | Ehlers-Danlos syndrome, type 4 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001589110 | SCV001821899 | benign | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000244220 | SCV004363051 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000218509 | SCV001744669 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000218509 | SCV001807682 | benign | not specified | no assertion criteria provided | clinical testing |