ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3846T>A (p.Ser1282Arg)

gnomAD frequency: 0.00202  dbSNP: rs147659164
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172576 SCV000054746 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172576 SCV000236069 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000183600 SCV000270594 likely benign not specified 2017-05-18 criteria provided, single submitter clinical testing p.Ser1282Arg in exon 21 of MYPN: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (157/24030) of African chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg/; dbSNP rs147659164).
Labcorp Genetics (formerly Invitae), Labcorp RCV001085766 SCV000563300 benign Dilated cardiomyopathy 1KK 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618974 SCV000735200 likely benign Cardiovascular phenotype 2018-12-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000183600 SCV003928613 likely benign not specified 2023-04-10 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003992210 SCV004809441 likely benign MYPN-related myopathy 2024-04-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000172576 SCV005228116 likely benign not provided criteria provided, single submitter not provided

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