ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99877_99878delinsGT (p.Lys33293Val)

dbSNP: rs2154138101
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001797865 SCV002039194 uncertain significance Tibial muscular dystrophy 2021-12-23 criteria provided, single submitter clinical testing The variant is not present in databases nor has it been reported in the literature. It was detected in a father and a son both affected by neuromuscular disease. It affects the predominant titin isoform in skeletal muscle. However, it is regarded as a variant of uncertain significance.

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