ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.4104del (p.Asp1368fs) (rs72664237)

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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 RCV000499018 SCV000589109 pathogenic Pseudoxanthoma elasticum criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504780 SCV000598672 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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