Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001522178 | SCV001731665 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001554080 | SCV001775241 | benign | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001522178 | SCV005322795 | benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000116344 | SCV000150265 | 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. |