Rachel Bluebond explores SMAD4 and its associated conditions of juvenile polyposis syndrome (JPS) and Myhre syndrome.

The Gene Scene covers CASQ2 from the ACMG Secondary Findings list and it’s link to CASQ2-related catecholaminergic polymorphic ventricular tachycardia (CPVT).

Discover how a BRCA2 variant reclassification, thanks in part to new MAVEs data and the Ambry Classifi® Program, unlocked potentially life-saving options for a 2x…

In this Gene Scene, Katherine Crawford covers gene-disase validity in the CALM2 gene leading CALM2–related calmodulinopathy with clinical considerations for genetic counselors.

Caitlin Reid, MS, LGC, explores RB1 and its association with RBI-related retinoblastoma in this weekly snapshot of clinically actionable genes from the ACMG Secondary Findings…

Brooke Sample, MS, CGC, covers he RPE65 gene, which is critical for the “visual cycle”—the process of regenerating light-sensitive pigments in the eye. Mutations in…