Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003153643 | SCV000553463 | likely benign | Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002481475 | SCV002791532 | uncertain significance | Congenital amegakaryocytic thrombocytopenia; Primary myelofibrosis; Thrombocythemia 2 | 2021-12-13 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001272210 | SCV001453968 | uncertain significance | Congenital amegakaryocytic thrombocytopenia | 2020-09-16 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004735544 | SCV005352458 | uncertain significance | MPL-related disorder | 2024-03-24 | no assertion criteria provided | clinical testing | The MPL c.173C>T variant is predicted to result in the amino acid substitution p.Ala58Val. To our knowledge, this variant has not been reported in the literature as a germline variant. This variant is reported in 0.15% of alleles in individuals of East Asian descent in gnomAD which may be too frequent for an unreported disease-causing variant. This variant has conflicting interpretation in ClinVar ranging from uncertain to likely benign (https://preview.ncbi.nlm.nih.gov/clinvar/variation/412015/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |