ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.12537G>C (p.Gln4179His)

gnomAD frequency: 0.06351  dbSNP: rs185838223
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Total submissions: 4
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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 RCV000454811 SCV000539779 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Genome-Nilou Lab RCV001420689 SCV001623033 benign Interstitial lung disease 2 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001613279 SCV001833881 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613279 SCV005319781 benign not provided criteria provided, single submitter not provided

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