ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14451A>G (p.Thr4817=)

gnomAD frequency: 0.00029  dbSNP: rs370621465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234120 SCV000286446 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000602703 SCV000728943 likely benign not specified 2018-03-05 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000602703 SCV004020322 likely benign not specified 2023-06-18 criteria provided, single submitter clinical testing

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