Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000822987 | SCV000963819 | likely benign | Adams-Oliver syndrome 5 | 2024-11-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004029121 | SCV003693406 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-07-14 | criteria provided, single submitter | clinical testing | The c.7298T>C (p.F2433S) alteration is located in exon 34 (coding exon 34) of the NOTCH1 gene. This alteration results from a T to C substitution at nucleotide position 7298, causing the phenylalanine (F) at amino acid position 2433 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV004721639 | SCV005328054 | uncertain significance | not provided | 2024-02-28 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Prevention |
RCV004735822 | SCV005351868 | likely benign | NOTCH1-related disorder | 2024-06-10 | no assertion criteria provided | 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). |