Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001537847 | SCV000536618 | uncertain significance | not provided | 2023-01-23 | criteria provided, single submitter | clinical testing | Has not been previously published in association with a NOTCH1-related phenotype to our knowledge; Reported to occur in 0.15% of alleles from an ancestrally diverse cohort of 681 healthy individuals from 352 families who underwent cancer-susceptibility genetic testing (Bodian et al., 2014), although follow-up clinical evaluations, family histories and segregation data were not provided; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23860447, 24113472, 33918692, 24728327, 33735874) |
Invitae | RCV000539993 | SCV000659485 | likely benign | Adams-Oliver syndrome 5 | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000660177 | SCV000782171 | likely benign | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121701 | SCV000085899 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |