Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815261 | SCV000955710 | likely benign | Methylmalonic aciduria, cblB type | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000815261 | SCV001459240 | uncertain significance | Methylmalonic aciduria, cblB type | 2020-09-16 | no assertion criteria provided | clinical testing | |
Genome |
RCV000815261 | SCV001749687 | not provided | Methylmalonic aciduria, cblB type | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 08-28-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |