ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.690-4732C>T (rs281865143)

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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 RCV000769277 SCV000900653 uncertain significance Cardiomyopathy 2017-08-02 criteria provided, single submitter clinical testing
GeneReviews RCV000033938 SCV000057864 pathologic Myofibrillar myopathy, ZASP-related 2012-10-29 no assertion criteria provided curation Converted during submission to Pathogenic.

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