ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26469G>A (p.Thr8823=)

dbSNP: rs775381639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001468489 SCV001672543 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-08-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424484 SCV004155243 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing TTN: PM2:Supporting, BP4, BP7

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