Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002230794 | SCV000547890 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001285617 | SCV001472079 | uncertain significance | Ehlers-Danlos syndrome, classic type, 2 | 2019-08-08 | criteria provided, single submitter | clinical testing | The COL5A2 c.238C>G; p.Leu80Val variant (rs746454126), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 408291). This variant is found in the East Asian population with an allele frequency of 0.044% (8/18,388 alleles) in the Genome Aggregation Database. The leucine at codon 80 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of this variant is uncertain at this time. |