ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32808G>T (p.Val10936=)

gnomAD frequency: 0.00002  dbSNP: rs794727109
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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) RCV000174633 SCV000225965 uncertain significance not provided 2015-02-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001466705 SCV001670713 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-26 criteria provided, single submitter clinical testing

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