Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000755944 | SCV000883627 | likely benign | not provided | 2018-04-20 | criteria provided, single submitter | clinical testing | The c.1761A>G; p.Pro587Pro variant (rs746150563) does not alter the amino acid sequence of the COL1A2 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 a South Asian population frequency of 0.01% (identified on 4 out of 30,778 chromosomes). Based on the available information, the c.1761A>G variant is likely to be benign. |
Invitae | RCV002533780 | SCV003501587 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2019-12-31 | criteria provided, single submitter | clinical testing |