ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16159A>C (p.Arg5387=)

gnomAD frequency: 0.00001  dbSNP: rs371501460
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000282104 SCV000339930 uncertain significance not provided 2016-03-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170652 SCV001333246 likely benign Cardiomyopathy 2019-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001399638 SCV001601428 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701381 SCV005202575 likely benign not specified 2024-07-12 criteria provided, single submitter clinical testing

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