ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.15861A>G (p.Pro5287=)

gnomAD frequency: 0.05669  dbSNP: rs56344012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155562 SCV000205263 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro5287Pro in exon 36 of MUC5B: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 7.0% (13/186) of F innish chromosomes from a broad population by the 1000 Genomes Project (http://w ww.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs56344012).
Eurofins Ntd Llc (ga) RCV000155562 SCV000229822 likely benign not specified 2014-06-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706605 SCV005223107 likely benign not provided criteria provided, single submitter not provided

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