Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002229797 | SCV000284820 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-09-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001582766 | SCV001813394 | uncertain significance | not provided | 2021-05-14 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 237777; Landrum et al., 2016) |
Genome |
RCV000232540 | SCV000606951 | not provided | Ehlers-Danlos syndrome, classic type | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |