ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77817T>C (p.Asp25939=)

dbSNP: rs752754298
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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 RCV002080254 SCV002322230 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-11-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711739 SCV005259424 likely benign not provided criteria provided, single submitter not provided

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