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
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
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

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