ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49978G>A (p.Val16660Ile)

gnomAD frequency: 0.00001  dbSNP: rs757016105
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467018 SCV000542836 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-11-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517016 SCV000616095 uncertain significance not specified 2017-07-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727036 SCV000705080 uncertain significance not provided 2016-12-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000727036 SCV001715764 uncertain significance not provided 2020-09-08 criteria provided, single submitter clinical testing

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