Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics Branch, |
RCV000856620 | SCV000995062 | likely pathogenic | Radial aplasia-thrombocytopenia syndrome | 2019-09-16 | no assertion criteria provided | research | The 1q21.1 TAR-associated deletion in combination with the G variant of rs61746197 on the non-deleted allele is associated with a TAR-like phenotype. rs61746197 G could be a functional enhancer/repressor element but more studies are required to identify the specific factor(s) responsible. Overall, our findings suggest a role of rs61746197 A>G and human disease in the setting of a 1q21.1 deletion on the other chromosome. |