ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102558C>T (p.Thr34186=)

gnomAD frequency: 0.00001  dbSNP: rs1457807365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001582376 SCV001821344 likely benign not specified 2021-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002592485 SCV003524415 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-28 criteria provided, single submitter clinical testing

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