ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26395G>A (p.Val8799Met)

gnomAD frequency: 0.00001  dbSNP: rs1560601919
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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 RCV000769048 SCV000900421 uncertain significance Cardiomyopathy 2015-11-11 criteria provided, single submitter clinical testing

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