Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000586669 | SCV000527392 | likely benign | not provided | 2023-01-25 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586669 | SCV000697421 | uncertain significance | not provided | 2017-05-15 | criteria provided, single submitter | clinical testing | Variant summary: The TP53 c.*6T>A variant involves the alteration of a non-conserved nucleotide in the 3'-UTR. One in silico tool predicts a benign outcome for this variant. This variant was found in 3/121410 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0002884 (3/10404). This frequency is about 7 times the estimated maximal expected allele frequency of a pathogenic TP53 variant (0.0000398), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. One clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS)-possibly benign until additional information becomes available. |
| Color Diagnostics, |
RCV001177928 | SCV001342241 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-22 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000586669 | SCV004221341 | likely benign | not provided | 2022-05-12 | criteria provided, single submitter | clinical testing |