ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70983G>A (p.Pro23661=)

gnomAD frequency: 0.00002  dbSNP: rs568193318
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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) RCV000733704 SCV000861797 uncertain significance not provided 2018-06-18 criteria provided, single submitter clinical testing
Invitae RCV001088370 SCV001065769 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330933 SCV004038651 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486926 SCV004240092 likely benign Cardiomyopathy 2022-07-07 criteria provided, single submitter clinical testing

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