ClinVar Miner

Submissions for variant NM_133459.4(CCBE1):c.776-164G>A

gnomAD frequency: 0.38292  dbSNP: rs11152148
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554596 SCV001775859 benign Hennekam lymphangiectasia-lymphedema syndrome 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001673212 SCV001889245 benign not provided 2018-11-10 criteria provided, single submitter clinical testing

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