ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7634C>T (p.Thr2545Ile)

gnomAD frequency: 0.00002  dbSNP: rs1016165797
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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 RCV000526249 SCV000643680 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486871 SCV004240124 likely benign Cardiomyopathy 2023-05-16 criteria provided, single submitter clinical testing

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