ClinVar Miner

Submissions for variant NM_003571.4(BFSP2):c.859C>T (p.Arg287Trp)

gnomAD frequency: 0.00001  dbSNP: rs104893685
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006961 SCV000027157 pathogenic Cataract 12 multiple types 2000-04-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056969 SCV000088082 not provided not provided no assertion provided not provided

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