Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Prenatal Diagnosis Center, |
RCV001420163 | SCV001622433 | likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2021-05-13 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001420163 | SCV003828377 | likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2022-04-08 | criteria provided, single submitter | clinical testing | |
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, |
RCV001420163 | SCV004099281 | likely pathogenic | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2023-10-28 | criteria provided, single submitter | clinical testing | This variant has been reported twice, and the patient exhibited symptoms of elevated Hcy levels. |
Baylor Genetics | RCV003463041 | SCV004196434 | likely pathogenic | Neural tube defects, folate-sensitive | 2023-07-27 | criteria provided, single submitter | clinical testing |