ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23443C>T (p.Arg7815Trp)

dbSNP: rs528264100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000473099 SCV000542539 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-10-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480632 SCV004225904 uncertain significance not provided 2023-06-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486845 SCV004239861 likely benign Cardiomyopathy 2023-06-07 criteria provided, single submitter clinical testing

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