Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000506295 | SCV000603212 | likely benign | not provided | 2017-05-03 | criteria provided, single submitter | clinical testing | The c.3348G>A variant is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP) , and the Exome Aggregation Consortium (ExAC) browser. However, it does not alter the amino acid sequence of the COL5A2 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 aortopathy in medical literature or in gene specific variation databases. Based on these observations, the c.3348G>A variant is likely to be benign. |
Invitae | RCV002060169 | SCV002367439 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2021-09-08 | criteria provided, single submitter | clinical testing |