ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58433-7del

dbSNP: rs758370659
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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 RCV001518826 SCV001727598 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702109 SCV001928435 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001729935 SCV001979290 benign not specified no assertion criteria provided clinical testing

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