ClinVar Miner

Submissions for variant NM_003380.5(VIM):c.451G>A (p.Glu151Lys)

gnomAD frequency: 0.00003  dbSNP: rs121917775
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012983 SCV000033228 pathogenic Cataract 30 2009-03-15 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056967 SCV000088080 not provided not provided no assertion provided not provided

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