ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.14057C>T (p.Thr4686Met)

gnomAD frequency: 0.05482  dbSNP: rs4963058
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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 RCV000454943 SCV000539785 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
Breakthrough Genomics, Breakthrough Genomics RCV004718675 SCV005319789 benign not provided criteria provided, single submitter not provided

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