Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532992 | SCV000659427 | benign | Adams-Oliver syndrome 5 | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000660159 | SCV000782153 | uncertain significance | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000532992 | SCV002553478 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270691 | SCV002553479 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506375 | SCV002814122 | uncertain significance | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2021-12-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736818 | SCV004563309 | uncertain significance | not provided | 2023-04-07 | criteria provided, single submitter | clinical testing | The NOTCH1 c.3664G>A; p.Val1222Met variant (rs112900950), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 477917). This variant is found in the general population with an overall allele frequency of 0.0015% (4/266960 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.194). Due to limited information, the clinical significance of this variant is uncertain at this time. |