ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7161C>G (p.Val2387=)

dbSNP: rs2091900653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001540562 SCV001758458 likely benign not provided 2018-09-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005213540 SCV005858454 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-05-26 criteria provided, single submitter clinical testing

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