ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.3883-24G>A (rs59513011)

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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 RCV000499231 SCV000589182 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research
Reproductive Health Research and Development,BGI Genomics RCV000499231 SCV001142458 likely benign Pseudoxanthoma elasticum 2020-01-06 no assertion criteria provided curation NG_007558.2(NM_001171.5):c.3883-24G>A in the ABCC6 gene has an allele frequency of 0.014 in South Asian subpopulation in the gnomAD database. Benign computational verdict because benign prediction from DANN. The variant was identified in a pseudoxanthoma elasticum patient (PMID: 16127278). Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BP4.

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