ClinVar Miner

Submissions for variant NM_182925.5(FLT4):c.3320TCT[1] (p.Phe1108del)

dbSNP: rs587776833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002254267 SCV002525639 pathogenic not provided 2021-06-11 criteria provided, single submitter clinical testing This variant has been previously reported in the scientific literature in association with Milroy disease and primary lymphedemas (PMID: 12960217, PMID: 23074044, PMID: 19002718).
OMIM RCV000017656 SCV000037933 pathogenic Hereditary lymphedema type I 2003-09-01 no assertion criteria provided literature only

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