ClinVar Miner

Submissions for variant NM_133459.4(CCBE1):c.837C>T (p.Pro279=)

gnomAD frequency: 0.01198  dbSNP: rs61745250
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244858 SCV000315703 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345081 SCV000409963 benign Hennekam lymphangiectasia-lymphedema syndrome 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000345081 SCV001157413 benign Hennekam lymphangiectasia-lymphedema syndrome 1 2023-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517632 SCV001726169 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517632 SCV005309165 benign not provided criteria provided, single submitter not provided

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