ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17740+7A>G

dbSNP: rs2080364920
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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 RCV001170642 SCV001333236 uncertain significance Cardiomyopathy 2017-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068046 SCV002423735 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-09 criteria provided, single submitter clinical testing

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