Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000087655 | SCV000830670 | pathogenic | Ehlers-Danlos syndrome, type 4 | 2024-03-11 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 44 of the COL3A1 gene. It does not directly change the encoded amino acid sequence of the COL3A1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with vascular Ehlers–danlos syndrome (PMID: 24922459, 34226255, 35984436; Invitae). ClinVar contains an entry for this variant (Variation ID: 101417). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Collagen Diagnostic Laboratory, |
RCV000087655 | SCV000120547 | pathogenic | Ehlers-Danlos syndrome, type 4 | no assertion criteria provided | clinical testing |