ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1560A>G (p.Thr520=)

dbSNP: rs2154354699
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002077127 SCV002453451 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-07-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699841 SCV001922633 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726617 SCV001962922 likely benign not provided no assertion criteria provided clinical testing

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