ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.450G>A (p.Leu150=)

gnomAD frequency: 0.00001  dbSNP: rs1379018063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187039 SCV001353697 likely benign Cardiomyopathy 2019-05-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008654 SCV004845814 likely benign Hypertrophic cardiomyopathy 2024-07-29 criteria provided, single submitter clinical testing

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