ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.3389C>T (p.Thr1130Met) (rs63750459)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006947 SCV000027143 pathogenic Pseudoxanthoma elasticum 2004-03-01 no assertion criteria provided literature only
PXE International RCV000006947 SCV000589053 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505108 SCV000598671 likely pathogenic Abnormality of the eye 2015-01-01 no assertion criteria provided research Undetermined rare ocular disorder with frequency of less than eight patients

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