ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33561G>T (p.Val11187=)

gnomAD frequency: 0.00011  dbSNP: rs763629416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087228 SCV000643006 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732978 SCV000860980 uncertain significance not provided 2018-05-03 criteria provided, single submitter clinical testing

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