ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22545C>G (p.Pro7515=)

gnomAD frequency: 0.00010  dbSNP: rs373496180
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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) RCV000729156 SCV000856798 uncertain significance not provided 2017-09-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088934 SCV001084008 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-28 criteria provided, single submitter clinical testing

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