ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34341C>T (p.Pro11447=)

gnomAD frequency: 0.00003  dbSNP: rs369715093
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457185 SCV000555589 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711116 SCV005260003 likely benign not provided criteria provided, single submitter not provided

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