ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66057A>G (p.Lys22019=)

gnomAD frequency: 0.00003  dbSNP: rs372989710
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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 RCV000643165 SCV000764852 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-09-10 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729834 SCV000857526 uncertain significance not provided 2017-10-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000729834 SCV005879328 likely benign not provided 2024-08-09 criteria provided, single submitter clinical testing

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