Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001488821 | SCV001693346 | likely benign | Charcot-Marie-Tooth disease type 2 | 2022-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002456865 | SCV002612889 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-08 | criteria provided, single submitter | clinical testing | The c.3492C>T variant (also known as p.N1164N), located in coding exon 30 of the KIF1B gene, results from a C to T substitution at nucleotide position 3492. This nucleotide substitution does not change the at codon 1164. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |