ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5080C>T (p.Leu1694Phe)

gnomAD frequency: 0.00001  dbSNP: rs769798880
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536531 SCV000643297 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-07 criteria provided, single submitter clinical testing
GeneDx RCV003313096 SCV004012553 uncertain significance not provided 2023-01-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV003313096 SCV004225930 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing

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