Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000645560 | SCV000767310 | likely benign | Charcot-Marie-Tooth disease type 2C | 2017-12-08 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000756824 | SCV000884747 | likely benign | not provided | 2018-04-26 | criteria provided, single submitter | clinical testing | The p.Val633Val variant (rs753027239) does not alter the amino acid sequence of the TRPV4 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 hereditary sensory neuropathy in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.006 percent in the European Non-Finnish population (identified on 9 out of 125,488 chromosomes). Based on these observations, the p.Val633Val variant is likely to be benign. |