ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.353+16G>A

gnomAD frequency: 0.00004  dbSNP: rs572363699
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000600454 SCV000745539 benign Hypertrophic cardiomyopathy 10 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000600454 SCV002346140 likely benign Hypertrophic cardiomyopathy 10 2024-12-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000600454 SCV000733131 likely benign Hypertrophic cardiomyopathy 10 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701062 SCV001924257 benign not specified no assertion criteria provided clinical testing

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