Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000971525 | SCV001119180 | likely benign | not provided | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002524494 | SCV003722535 | uncertain significance | Inborn genetic diseases | 2022-05-04 | criteria provided, single submitter | clinical testing | The c.1304A>C (p.N435T) alteration is located in exon 7 (coding exon 7) of the TFAP2B gene. This alteration results from a A to C substitution at nucleotide position 1304, causing the asparagine (N) at amino acid position 435 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003932473 | SCV004750235 | likely benign | TFAP2B-related condition | 2022-11-08 | 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). |