Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000953280 | SCV001099843 | benign | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000953280 | SCV001500913 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | ANK3: BP4, BP7 |
Genetic Services Laboratory, |
RCV000116340 | SCV000150261 | 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. |