ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.2631-9C>G

gnomAD frequency: 0.03288  dbSNP: rs55771636
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Total submissions: 2
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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 RCV000155558 SCV000205259 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 2631-9C>G in intron 21 of MUC5B: This variant is not expected to have clinical s ignificance because it has been identified in 3.2% (265/8382) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs55771636).
Breakthrough Genomics, Breakthrough Genomics RCV004718075 SCV005319708 benign not provided criteria provided, single submitter not provided

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