ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48639-3C>A

dbSNP: rs923663993
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643422 SCV000765109 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-25 criteria provided, single submitter clinical testing

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