ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38386G>C (p.Glu12796Gln)

gnomAD frequency: 0.00029  dbSNP: rs577399087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993430 SCV001146390 likely benign not provided 2018-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005213421 SCV005853724 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-06-03 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005405472 SCV006067504 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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