ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7534G>A (p.Glu2512Lys)

gnomAD frequency: 0.00001  dbSNP: rs116049561
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468726 SCV000542272 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-11-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770120 SCV000901546 uncertain significance Cardiomyopathy 2016-04-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480348 SCV002781550 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 2021-10-01 criteria provided, single submitter clinical testing

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