Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001733868 | SCV001985034 | not provided | Tubulointerstitial kidney disease, autosomal dominant, 2 | no assertion provided | literature only | Variant encodes the MUC1fs protein [Zivna et al 2018]. This variant not detected by most available clinically MUC1 genetic testing. |