Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000191062 | SCV000245451 | likely pathogenic | Hyaline fibromatosis syndrome | 2013-07-08 | criteria provided, single submitter | clinical testing | At time of reporting, this variant was novel. Likely pathogenicity based on finding it in trans with a deleterious frameshift variant [T436fs] in a 21-year-old female with juvenile hyaline fibromatosis. |