Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001290212 | SCV001468576 | uncertain significance | Congenital anomaly of kidney and urinary tract | 2021-01-09 | criteria provided, single submitter | curation | This ROBO2 variant was reported as Likely pathogenic​ in PMID: 24429398 with original nomenclature reported as c.724A>G, p.T242A. Variant was re-classified as Uncertain Significance based on the criteria PM2_Supporting. |