Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001034490 | SCV001197847 | likely benign | Koolen-de Vries syndrome | 2019-10-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002552445 | SCV003573999 | uncertain significance | Inborn genetic diseases | 2021-08-09 | criteria provided, single submitter | clinical testing | The c.73C>G (p.P25A) alteration is located in exon 2 (coding exon 1) of the KANSL1 gene. This alteration results from a C to G substitution at nucleotide position 73, causing the proline (P) at amino acid position 25 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |