Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001286942 | SCV001473571 | uncertain significance | Telangiectasia, hereditary hemorrhagic, type 1 | 2020-04-29 | criteria provided, single submitter | clinical testing | The ENG c.1429-8C>G variant (rs376169815), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on only four chromosomes (4/278642 alleles) in the Genome Aggregation Database. This is an intronic variant in a moderately conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site; however, RNA studies would be required to confirm this. Given the lack of clinical and functional data, the significance of the c.1429-8C>G variant is uncertain at this time. |
Invitae | RCV003759039 | SCV004398004 | likely benign | Hereditary hemorrhagic telangiectasia | 2023-03-22 | criteria provided, single submitter | clinical testing |