ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.15104G>A (p.Arg5035His)

gnomAD frequency: 0.00225  dbSNP: rs141222463
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Total submissions: 1
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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 RCV000214556 SCV000269247 benign not specified 2016-03-16 criteria provided, single submitter clinical testing p.Arg5035His in exon 33 of MUC5B: This variant is not expected to have clinical significance because it has been identified in 1% (82/8512) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs141222463).

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