ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5048G>A (p.Arg1683Gln)

gnomAD frequency: 0.00010  dbSNP: rs368122582
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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 RCV000643211 SCV000764898 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139986 SCV003826596 uncertain significance not provided 2022-03-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003139986 SCV005408924 uncertain significance not provided 2024-09-18 criteria provided, single submitter clinical testing

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