ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4326G>A (p.Leu1442=)

gnomAD frequency: 0.00001  dbSNP: rs727503243
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Total submissions: 5
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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 RCV000151239 SCV000199116 likely benign not specified 2014-11-03 criteria provided, single submitter clinical testing p.Leu1442Leu in exon 31 of MYH7: 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001504478 SCV001709357 likely benign Hypertrophic cardiomyopathy 2024-09-15 criteria provided, single submitter clinical testing
GeneDx RCV001668300 SCV001890704 benign not provided 2017-01-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003531976 SCV004356811 likely benign Cardiomyopathy 2022-11-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003531976 SCV004816417 likely benign Cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing

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