Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000240446 | SCV000299106 | uncertain significance | Generalized juvenile polyposis/juvenile polyposis coli | 2015-12-25 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 3-5 of the BMPR1A gene. The 3' boundary is likely confined to the intronic region between exons 5 and 6. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with a BMPR1A-related disease. In summary, this is a novel duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |