ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48461-18C>G

gnomAD frequency: 0.00003  dbSNP: rs759697221
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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 RCV002190717 SCV002355893 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226530 SCV003923264 likely benign not specified 2024-12-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232809 SCV005875518 likely benign not provided 2024-06-04 criteria provided, single submitter clinical testing

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