ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66357T>A (p.Gly22119=)

gnomAD frequency: 0.00001  dbSNP: rs1471586274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001715308 SCV001940465 likely benign not provided 2019-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073332 SCV002397790 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-07 criteria provided, single submitter clinical testing

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