ClinVar Miner

Submissions for variant NM_020297.3(ABCC9):c.817-7del (rs193922684)

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Total submissions: 4
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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 RCV000029283 SCV000900774 benign Cardiomyopathy 2017-07-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029283 SCV000051929 likely benign Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Invitae RCV000204077 SCV000262491 benign Dilated cardiomyopathy 1O 2017-07-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038626 SCV000062304 likely benign not specified 2012-04-24 criteria provided, single submitter clinical testing 817-7delT in intron 5 of ABCC9:

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