ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52000C>T (p.Leu17334=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479569 SCV004222994 likely benign not specified 2023-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779189 SCV004595321 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-06-02 criteria provided, single submitter clinical testing

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