ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7413T>A (p.Pro2471=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003429445 SCV004148198 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV005216098 SCV005852494 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-08-04 criteria provided, single submitter clinical testing

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