ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.220= (p.Gln74=)

gnomAD frequency: 0.98540  dbSNP: rs6890689
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153527 SCV000203055 benign not specified 2017-10-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000153527 SCV000269381 benign not specified 2014-11-26 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.220A) is the minor allele. This al lele (A) has been identified in 4% (193/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs 6890689) and thus meets criteria to be classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000987603 SCV001156894 benign Myofibrillar myopathy 3 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV000987603 SCV001728007 benign Myofibrillar myopathy 3 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001636695 SCV001847906 benign not provided 2021-03-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 15947064, 25617006, 20981092, 22995991)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000153527 SCV003928315 benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000153527 SCV001739862 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000153527 SCV001920372 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001636695 SCV001932037 likely benign not provided no assertion criteria provided clinical testing

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