Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003415924 | SCV004115161 | uncertain significance | EGFR-related condition | 2023-09-21 | criteria provided, single submitter | clinical testing | The EGFR c.3178T>G variant is predicted to result in the amino acid substitution p.Ser1060Ala. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
ITMI | RCV000122377 | SCV000083928 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |