ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.*38G>A (rs59461468)

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Total submissions: 2
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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,BGI Genomics 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.

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