ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5533C>T (p.Arg1845Trp)

gnomAD frequency: 0.00223  dbSNP: rs199600574
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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 RCV000616038 SCV000711110 benign not specified 2017-08-25 criteria provided, single submitter clinical testing p.Arg1845Trp in exon 40 of MYH14: This variant is not expected to have clinical significance because it has been identified in 2.3% (590/25778) of Finnish chrom osomes including 6 homozygotes by the Genome Aggregation Database (gnomAD, http: //gnomad.broadinstitute.org; dbSNP rs199600574).
Invitae RCV002065190 SCV002474282 benign not provided 2022-09-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945454 SCV004760109 benign MYH14-related condition 2019-03-20 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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