Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000252320 | SCV000316031 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000359423 | SCV000414549 | benign | Familial cold autoinflammatory syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001001698 | SCV001159270 | benign | Familial cold autoinflammatory syndrome 2 | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001001698 | SCV001720823 | benign | Familial cold autoinflammatory syndrome 2 | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262905 | SCV002542440 | benign | Autoinflammatory syndrome | 2022-01-14 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001824715 | SCV005310544 | benign | not provided | criteria provided, single submitter | not provided | ||
OMIM | RCV000627082 | SCV000747892 | risk factor | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO | 2018-05-15 | no assertion criteria provided | literature only | |
Genome |
RCV001824715 | SCV002074714 | not provided | not provided | no assertion provided | phenotyping only | Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing. |