ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63505C>T (p.Leu21169=)

dbSNP: rs543686186
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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 RCV002539708 SCV003524376 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-08-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703408 SCV001932628 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001703408 SCV001965387 likely benign not provided no assertion criteria provided clinical testing

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