Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000757192 | SCV000885330 | likely benign | not provided | 2018-02-15 | criteria provided, single submitter | clinical testing | The c.657G>A variant (rs374440380) does not alter the amino acid sequence of the DYNC1H1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with CMT in medical literature or in gene specific variation databases, and is classified as likely benign in ClinVar (ID: 415334). This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.008% (identified on 22 out of 277,216 chromosomes). Based on the available information, the c.657G>A variant is likely to be benign. |
Invitae | RCV001399243 | SCV001601028 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374853 | SCV002667539 | likely benign | Inborn genetic diseases | 2017-12-04 | 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. |