Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000958408 | SCV000717905 | likely benign | not provided | 2021-05-06 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000610940 | SCV000966452 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Pro59Pro in exon 3 of KITLG: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.25% (165/66628) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs61924705). |
Invitae | RCV000958408 | SCV001105248 | benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000958408 | SCV004135557 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | KITLG: BP4, BP7 |