Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153925 | SCV000203542 | uncertain significance | not provided | 2014-03-10 | criteria provided, single submitter | clinical testing | |
Soonchunhyang University Bucheon Hospital, |
RCV000490449 | SCV000267494 | uncertain significance | Congenital dyserythropoietic anemia, type II | 2016-03-18 | criteria provided, single submitter | reference population | |
Invitae | RCV001082004 | SCV001098657 | likely benign | Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000490449 | SCV001141224 | uncertain significance | Congenital dyserythropoietic anemia, type II | 2019-05-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000153925 | SCV001159979 | uncertain significance | not provided | 2020-12-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001335411 | SCV001528555 | uncertain significance | Cowden syndrome 7 | 2018-05-09 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |