Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
PXE International | RCV000499362 | SCV000589129 | pathogenic | Pseudoxanthoma elasticum | no assertion criteria provided | research | ||
Reproductive Health Research and Development, |
RCV000499362 | SCV001142456 | benign | Pseudoxanthoma elasticum | 2020-01-06 | no assertion criteria provided | curation | NM_001171.5:c.*38G>A in the ABCC6 gene has an allele frequency of 0.056 in Latino subpopulation in the gnomAD database. 66 homozygous occurrences are observed in the gnomAD database.This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2. |