ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.3928C>T (p.Pro1310Ser)

gnomAD frequency: 0.00871  dbSNP: rs115299660
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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 RCV000151042 SCV000198778 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro1310Ser in exon 30 of MUC5B: This variant is not expected to have clinical si gnificance because it has been identified in 3.2% (136/4240) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs115299660).
Breakthrough Genomics, Breakthrough Genomics RCV004718049 SCV005319715 benign not provided criteria provided, single submitter not provided

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