Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176707 | SCV000228407 | uncertain significance | not provided | 2014-11-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000176707 | SCV001994680 | uncertain significance | not provided | 2019-03-27 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Reported in ClinVar as a variant of uncertain significance but additional evidence is not available (SCV000228407.5; Landrum et al., 2016) |