Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Neuropathology, |
RCV000856563 | SCV000914193 | risk factor | Neurofibromatosis, type 1 | no assertion criteria provided | clinical testing | NM_000267.3:c.441C>A is a nonsense mutation in exon 4 of the NF1 gene. |