Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000297556 | SCV000341313 | uncertain significance | not provided | 2016-04-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002059222 | SCV002454606 | likely benign | Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 | 2022-09-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374473 | SCV002692680 | likely benign | Inborn genetic diseases | 2017-09-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |