ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83148C>T (p.Leu27716=)

gnomAD frequency: 0.00001  dbSNP: rs1255578553
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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 RCV001799248 SCV002043011 likely benign Cardiomyopathy 2020-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005225504 SCV005867936 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-03-18 criteria provided, single submitter clinical testing

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