Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000321490 | SCV000332265 | benign | not specified | 2015-06-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002494816 | SCV002800237 | likely benign | Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to | 2021-11-11 | criteria provided, single submitter | clinical testing | |
Intergen, |
RCV003243036 | SCV003936836 | likely benign | Congenital hyperammonemia, type I | 2023-07-06 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000509533 | SCV004562358 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000509533 | SCV000607290 | not provided | not provided | no assertion provided | phenotyping only | 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. |