ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5022C>G (p.Ala1674=)

gnomAD frequency: 0.00001  dbSNP: rs753444772
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433039 SCV000534661 likely benign not specified 2016-12-12 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.
Eurofins Ntd Llc (ga) RCV000731595 SCV000859435 uncertain significance not provided 2018-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002522637 SCV003472324 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-06 criteria provided, single submitter clinical testing

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