Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000756048 | SCV000883758 | uncertain significance | not provided | 2018-06-12 | criteria provided, single submitter | clinical testing | The DYNC1H1 c.8097A>G; p.Thr2699Thr variant (rs772002773), to our knowledge, is not reported in the medical literature or gene specific databases. This is a synonymous variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice site. This variant is found in the general population with an overall allele frequency of 0.006 % (18 / 277246 alleles) in the Genome Aggregation Database. Due to limited information, the clinical significance of the p.Thr2699Thr variant is uncertain at this time. |
Invitae | RCV001082695 | SCV001008654 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-12-27 | criteria provided, single submitter | clinical testing |