ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16622-9C>T

gnomAD frequency: 0.00005  dbSNP: rs752362183
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546128 SCV000642730 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001722489 SCV000716602 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001729633 SCV001979155 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001722489 SCV001979769 likely benign not provided no assertion criteria provided clinical testing

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