ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33366C>T (p.Val11122=)

gnomAD frequency: 0.00001  dbSNP: rs878915517
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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 RCV001084640 SCV000555598 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000595323 SCV000706756 uncertain significance not provided 2017-03-04 criteria provided, single submitter clinical testing

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