Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000948950 | SCV001095177 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000948950 | SCV001814058 | likely benign | not provided | 2021-05-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000948950 | SCV004136341 | benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | KNL1: BP4, BP7, BS1, BS2 |
Genetic Services Laboratory, |
RCV000116559 | SCV000150517 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. |