Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000464312 | SCV000548967 | benign | Adams-Oliver syndrome 5 | 2022-06-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001799662 | SCV002044046 | uncertain significance | not provided | 2022-11-30 | 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; This variant is associated with the following publications: (PMID: 25793878) |
Genome- |
RCV000464312 | SCV002553371 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270510 | SCV002553372 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002525579 | SCV003562757 | uncertain significance | Inborn genetic diseases | 2021-07-08 | criteria provided, single submitter | clinical testing | The c.5069C>T (p.S1690L) alteration is located in exon 27 (coding exon 27) of the NOTCH1 gene. This alteration results from a C to T substitution at nucleotide position 5069, causing the serine (S) at amino acid position 1690 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |