Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000228423 | SCV000290600 | benign | Charcot-Marie-Tooth disease axonal type 2C | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000301536 | SCV000335797 | benign | not specified | 2015-10-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705284 | SCV000514974 | benign | not provided | 2019-09-24 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173287 | SCV001336370 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics | RCV000301536 | SCV001475707 | benign | not specified | 2020-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374377 | SCV002624500 | 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. |
Ce |
RCV001705284 | SCV004131877 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | TRPV4: BP4, BP7 |