ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29092_29093CT[1] (p.Phe9700fs) (rs1553882262)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000502092 SCV000598115 pathogenic Dilated cardiomyopathy 1G 2016-11-21 criteria provided, single submitter clinical testing This pathogenic variant was found in a young patient with severe dilated cardiomyopathy, in combination with 2 variants (compound heterozygosity) in the TNNT2 gene. The combination of these three variants explain this severe phenotype in such a young patient.

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