ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74120T>A (p.Val24707Glu)

gnomAD frequency: 0.00001  dbSNP: rs780299418
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Total submissions: 1
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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 RCV001170332 SCV001332903 uncertain significance Cardiomyopathy 2017-11-28 criteria provided, single submitter clinical testing

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