Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000964409 | SCV001111613 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Undiagnosed Diseases Network, |
RCV002280102 | SCV002568422 | likely pathogenic | Microcephalic primordial dwarfism, Alazami type | 2022-06-15 | criteria provided, single submitter | clinical testing | Upon physical exam this individual was confirmed to clinically have Alazami syndrome. Also found to have telomere shortening (< 10%) by RepeatDx. |
Ce |
RCV000964409 | SCV002821267 | benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | LARP7: BS1, BS2 |
Breakthrough Genomics, |
RCV000964409 | SCV005304479 | benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000117486 | SCV000151704 | 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. |