ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52590T>C (p.Asn17530=)

dbSNP: rs777245474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643414 SCV000765101 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798941 SCV002042533 likely benign Cardiomyopathy 2019-09-24 criteria provided, single submitter clinical testing

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