ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77166T>C (p.Pro25722=) (rs757252494)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727210 SCV000706635 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000593181 SCV000726608 likely benign not specified 2018-01-04 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001284777 SCV001470798 likely benign none provided 2019-10-05 criteria provided, single submitter clinical testing
Invitae RCV001397000 SCV001598738 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-19 criteria provided, single submitter clinical testing

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