ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys)

dbSNP: rs387906859
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023277 SCV000044568 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2010-01-01 no assertion criteria provided literature only
OMIM RCV000023278 SCV000044569 pathogenic Arterial calcification, generalized, of infancy, 2 2010-01-01 no assertion criteria provided literature only
PXE International RCV000023277 SCV000589280 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 no assertion criteria provided research

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