ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22734C>A (p.Gly7578=)

gnomAD frequency: 0.00003  dbSNP: rs747844754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528911 SCV000642824 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005231052 SCV005878491 likely benign not provided 2024-08-07 criteria provided, single submitter clinical testing

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