Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002317422 | SCV000850779 | uncertain significance | Inborn genetic diseases | 2018-09-29 | criteria provided, single submitter | clinical testing | The c.3889_3891dupAAC variant (also known as p.N1297dup), located in coding exon 7 of the ANKRD11 gene, results from an in-frame duplication of AAC at nucleotide positions 3889 to 3891. This results in the duplication of an extra residue between codons 1297 and 1298. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV001615044 | SCV001841311 | benign | not provided | 2020-06-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002534965 | SCV002971371 | likely benign | KBG syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945763 | SCV004763120 | likely benign | ANKRD11-related condition | 2022-03-15 | 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). |