ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64672+2dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Personalized Medicine Clinic, Tartu University Hospital RCV003484462 SCV004228502 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J criteria provided, single submitter clinical testing We found in compound heterozygous state in trans with FINMaj variant NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA in two patients with Titin-related limb-girdle muscular dystrophy R10.

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