ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.35876-9T>C

gnomAD frequency: 0.00099  dbSNP: rs572783607
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465846 SCV000555341 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114594 SCV003799435 likely benign not provided 2022-03-08 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700375 SCV001917663 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700375 SCV001971060 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004735549 SCV005353159 likely benign TTN-related disorder 2024-06-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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