ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3297G>A (p.Glu1099=)

gnomAD frequency: 0.00090  dbSNP: rs144957142
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Total submissions: 6
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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 RCV000037472 SCV000061130 likely benign not specified 2015-10-30 criteria provided, single submitter clinical testing p.Glu1099Glu in exon 25 of MYH6: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.3% (28/10402) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs144957142).
GeneDx RCV001703882 SCV000515862 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Invitae RCV000460698 SCV000557902 benign Hypertrophic cardiomyopathy 14 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621424 SCV000736979 likely benign Cardiovascular phenotype 2023-05-26 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 RCV000037472 SCV001361611 benign not specified 2019-12-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703882 SCV004184343 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing MYH6: BP4, BP7

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