Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000373034 | SCV000332747 | likely benign | not specified | 2015-07-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088554 | SCV000755495 | benign | Jeune thoracic dystrophy | 2024-01-16 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000757200 | SCV000885341 | likely benign | not provided | 2018-03-25 | criteria provided, single submitter | clinical testing | The c.6918A>G; p.Ser2306Ser variant (rs368824340, ClinVar variant ID 281774) 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. This variant has not been reported in association with skeletal dysplasia in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an African population frequency of 0.3% (identified on 75 out of 23,996 chromosomes). Based on the available information, the c.6918A>G variant is likely to be benign. |
Gene |
RCV000757200 | SCV001820850 | likely benign | not provided | 2018-09-10 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000373034 | SCV002070179 | likely benign | not specified | 2020-03-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003939951 | SCV004759273 | likely benign | DYNC2H1-related condition | 2020-10-12 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |