ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25296C>T (p.Cys8432=)

gnomAD frequency: 0.00007  dbSNP: rs375720439
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552924 SCV000642872 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000614215 SCV000730228 likely benign not specified 2018-02-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000614215 SCV001880232 likely benign not specified 2021-02-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003457719 SCV004183829 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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