Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000191061 | SCV000245450 | pathogenic | Hyaline fibromatosis syndrome | 2013-07-08 | criteria provided, single submitter | clinical testing | This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in trans with a missense variant [S81P] in a 21-year-old female with juvenile hyaline fibromatosis. |