ClinVar Miner

Submissions for variant NM_006329.4(FBLN5):c.259C>T (p.Pro87Ser)

dbSNP: rs121434301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005813 SCV000025995 pathogenic Macular degeneration, age-related, 3 2004-07-22 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447071 SCV004174404 uncertain significance Age-related macular degeneration 2016-01-06 no assertion criteria provided literature only

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