ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1323G>A (p.Thr441=)

gnomAD frequency: 0.00005  dbSNP: rs397516096
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Total submissions: 10
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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 RCV000035711 SCV000059362 likely benign not specified 2009-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000035711 SCV000303208 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000617293 SCV000736991 likely benign Cardiovascular phenotype 2016-04-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000629087 SCV000750000 likely benign Hypertrophic cardiomyopathy 2023-12-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190876 SCV001358507 likely benign Cardiomyopathy 2018-11-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001311007 SCV001472319 likely benign not provided 2019-11-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311007 SCV001501020 likely benign not provided 2020-08-01 criteria provided, single submitter clinical testing
GeneDx RCV001311007 SCV001835980 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001190876 SCV003838764 likely benign Cardiomyopathy 2021-07-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001190876 SCV004817138 likely benign Cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

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