ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46702C>T (p.Pro15568Ser)

gnomAD frequency: 0.00001  dbSNP: rs561728671
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474983 SCV000542588 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000598114 SCV000707447 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000598114 SCV003825542 uncertain significance not provided 2020-05-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000598114 SCV002035003 uncertain significance not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000598114 SCV002036727 uncertain significance not provided no assertion criteria provided clinical testing

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