ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile)

gnomAD frequency: 0.00001  dbSNP: rs535319438
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV003137956 SCV005188158 uncertain significance not provided criteria provided, single submitter not provided
Revvity Omics, Revvity RCV003137956 SCV003826547 uncertain significance not provided 2023-11-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770097 SCV000901523 uncertain significance Cardiomyopathy 2016-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000461528 SCV000542712 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-03 criteria provided, single submitter clinical testing

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