ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15822A>T (p.Ala5274=)

gnomAD frequency: 0.00004  dbSNP: rs779456916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725105 SCV000334035 uncertain significance not provided 2015-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000371782 SCV000725757 likely benign not specified 2017-12-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000642964 SCV000764651 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-08 criteria provided, single submitter clinical testing

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