ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.502+6A>G

gnomAD frequency: 0.00005  dbSNP: rs569044957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170749 SCV001333354 likely benign Cardiomyopathy 2023-05-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001170749 SCV001344915 likely benign Cardiomyopathy 2019-08-14 criteria provided, single submitter clinical testing

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