ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66766T>C (p.Leu22256=)

gnomAD frequency: 0.00001  dbSNP: rs752922922
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731680 SCV000859526 likely benign not specified 2018-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061002 SCV002400435 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-11-07 criteria provided, single submitter clinical testing

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