Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000512971 | SCV000339030 | uncertain significance | not provided | 2016-02-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000383801 | SCV000527233 | likely benign | not specified | 2017-09-29 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ce |
RCV000512971 | SCV000608601 | uncertain significance | not provided | 2017-03-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001443493 | SCV001646466 | likely benign | Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002401992 | SCV002713824 | likely benign | Inborn genetic diseases | 2019-07-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |