Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000583959 | SCV000688560 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590625 | SCV000699238 | uncertain significance | not provided | 2016-02-08 | criteria provided, single submitter | clinical testing | Variant summary: This c.5332+7G>T variant affects a non-conserved nucleotide, resulting in intronic change. Although 5/5 splice-site tools via Alamut predict that this variant does not affect normal splicing, ESEfinder predicts activation of an ESE site. This variant was found in 3/120656 control chromosomes from the broad and large populations from ExAC at a frequency of 0.0000249, which does not exceed maximal expected frequency of a pathogenic allele (0.0010005) in this gene. The variant of interest has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories, nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information, the lack of functional studies and a very low frequency in general population, the variant has currently been classified as a variant of uncertain significance (VUS) until additional information becomes available. |
Invitae | RCV001087837 | SCV001076049 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000590625 | SCV001470397 | likely benign | not provided | 2022-09-16 | criteria provided, single submitter | clinical testing | |
Brotman Baty Institute, |
RCV001073052 | SCV001238540 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |