ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58561G>A (p.Glu19521Lys)

gnomAD frequency: 0.00001  dbSNP: rs746319976
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229588 SCV000286745 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-04-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765566 SCV000896881 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing

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