ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39057G>C (p.Pro13019=)

dbSNP: rs371945519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474656 SCV000542868 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-04-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170387 SCV001332964 likely benign Cardiomyopathy 2018-06-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437205 SCV004152445 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003902636 SCV004725099 likely benign TTN-related condition 2023-01-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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