ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.1652A>T (p.Lys551Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797070 SCV005417435 uncertain significance Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome criteria provided, single submitter clinical testing PM2_Supporting+PP3+PP4

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