Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002212582 | SCV002362374 | likely benign | Charcot-Marie-Tooth disease type 2 | 2021-07-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004045611 | SCV002700923 | uncertain significance | not specified | 2022-04-07 | criteria provided, single submitter | clinical testing | The c.1377-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 14 in the KIF1B gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003911285 | SCV004723714 | likely benign | KIF1B-related disorder | 2020-09-16 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |