Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000803314 | SCV000943178 | likely benign | Congenital hyperammonemia, type I | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000803314 | SCV003836136 | uncertain significance | Congenital hyperammonemia, type I | 2022-03-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003258979 | SCV003986331 | uncertain significance | Inborn genetic diseases | 2023-05-08 | criteria provided, single submitter | clinical testing | The c.121G>T (p.V41F) alteration is located in exon 1 (coding exon 1) of the CPS1 gene. This alteration results from a G to T substitution at nucleotide position 121, causing the valine (V) at amino acid position 41 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV000803314 | SCV002076201 | uncertain significance | Congenital hyperammonemia, type I | 2020-02-21 | no assertion criteria provided | clinical testing |