Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000438336 | SCV000531310 | likely benign | not specified | 2016-08-30 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000869176 | SCV001010583 | benign | Koolen-de Vries syndrome | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003168682 | SCV003905469 | uncertain significance | Inborn genetic diseases | 2023-02-22 | criteria provided, single submitter | clinical testing | The c.3236C>T (p.A1079V) alteration is located in exon 15 (coding exon 14) of the KANSL1 gene. This alteration results from a C to T substitution at nucleotide position 3236, causing the alanine (A) at amino acid position 1079 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |