ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85723G>A (p.Glu28575Lys)

gnomAD frequency: 0.00004  dbSNP: rs760762822
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769912 SCV000901338 uncertain significance Cardiomyopathy 2016-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000841666 SCV000983646 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000841666 SCV003821031 uncertain significance not provided 2022-10-12 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005357993 SCV005918970 uncertain significance TTN-related myopathy 2021-01-07 criteria provided, single submitter research
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005405301 SCV006069992 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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