Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595291 | SCV000707526 | likely benign | not specified | 2017-04-19 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000756055 | SCV000883767 | likely benign | not provided | 2018-01-02 | criteria provided, single submitter | clinical testing | The c.10335A>G; p.Glu3445Glu variant (rs369838929), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an African population frequency of 0.6% (identified on 99 out of 17,402 chromosomes). The c.10335A>G variant does not alter the amino acid sequence of the DYNC2H1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site (Alamut v.2.10.0). Based on the available information, the c.10335A>G variant is likely to be benign. |
Invitae | RCV001079191 | SCV001001832 | benign | Jeune thoracic dystrophy | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000756055 | SCV001764396 | likely benign | not provided | 2019-04-03 | criteria provided, single submitter | clinical testing |