Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000557127 | SCV000646270 | likely benign | Cryopyrin associated periodic syndrome | 2023-10-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002497159 | SCV002805950 | likely benign | Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1; Hearing loss, autosomal dominant 34, with or without inflammation | 2021-09-22 | criteria provided, single submitter | clinical testing |