ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.723G>A (p.Thr241=)

gnomAD frequency: 0.06060  dbSNP: rs2075855
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Total submissions: 3
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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 RCV000155551 SCV000205252 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr241Thr in exon 7 of MUC5B: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 6.0% (483/8038) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs2075855).
GeneDx RCV001636699 SCV001850111 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636699 SCV005319681 benign not provided criteria provided, single submitter not provided

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