ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu)

gnomAD frequency: 0.00006  dbSNP: rs751929345
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592154 SCV000707336 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Invitae RCV000643402 SCV000765089 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491214 SCV002798339 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 2021-09-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000592154 SCV003825485 uncertain significance not provided 2019-07-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150294 SCV003838622 uncertain significance Cardiomyopathy 2021-08-06 criteria provided, single submitter clinical testing

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