ClinVar Miner

Submissions for variant NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg)

dbSNP: rs121908252
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000476 SCV000020625 pathogenic Hennekam lymphangiectasia-lymphedema syndrome 1 2009-12-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000000476 SCV000091179 not provided Hennekam lymphangiectasia-lymphedema syndrome 1 no assertion provided not provided

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