ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59173G>A (p.Glu19725Lys)

gnomAD frequency: 0.00006  dbSNP: rs767601396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475679 SCV000543006 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-09-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507599 SCV001713237 uncertain significance not provided 2020-02-12 criteria provided, single submitter clinical testing

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