Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000284632 | SCV000451396 | benign | Hyaline fibromatosis syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Mendelics | RCV000284632 | SCV001136747 | benign | Hyaline fibromatosis syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000284632 | SCV001775144 | benign | Hyaline fibromatosis syndrome | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001618625 | SCV001843116 | benign | not provided | 2019-09-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22315420) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001805024 | SCV002050737 | benign | not specified | 2021-12-03 | criteria provided, single submitter | clinical testing |