ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)

gnomAD frequency: 0.00028  dbSNP: rs202200861
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000725391 SCV000336575 uncertain significance not provided 2015-10-15 criteria provided, single submitter clinical testing
GeneDx RCV000291190 SCV000516971 benign not specified 2015-09-22 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.
Invitae RCV001079869 SCV000555293 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000291190 SCV001821415 likely benign not specified 2021-08-28 criteria provided, single submitter clinical testing

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