ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15345T>A (p.Ile5115=)

gnomAD frequency: 0.00001  dbSNP: rs878891236
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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) RCV000310448 SCV000341522 uncertain significance not provided 2016-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001434865 SCV001637679 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-14 criteria provided, single submitter clinical testing

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