ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23814A>G (p.Thr7938=)

gnomAD frequency: 0.00001  dbSNP: rs566680341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770070 SCV000901496 likely benign Cardiomyopathy 2016-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061045 SCV002363447 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-05 criteria provided, single submitter clinical testing

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