ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73782C>T (p.Leu24594=)

gnomAD frequency: 0.00003  dbSNP: rs187307196
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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 RCV000643234 SCV000764921 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-15 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700435 SCV001917752 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726285 SCV001962732 likely benign not provided no assertion criteria provided clinical testing

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