ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu)

gnomAD frequency: 0.00002  dbSNP: rs781351100
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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) RCV000595566 SCV000701428 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
Invitae RCV000643599 SCV000765286 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764341 SCV000895360 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
GeneDx RCV000595566 SCV001787926 likely benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000595566 SCV003821732 uncertain significance not provided 2021-05-10 criteria provided, single submitter clinical testing

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