ClinVar Miner

Submissions for variant NM_001368067.1(LDB3):c.440C>T (p.Ala147Val)

dbSNP: 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 not provided Myofibrillar myopathy 4 no assertion provided literature only

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