ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39048A>T (p.Pro13016=)

dbSNP: rs747591613
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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 RCV001170388 SCV001332965 likely benign Cardiomyopathy 2018-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067840 SCV002429148 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-11-13 criteria provided, single submitter clinical testing

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