ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32936A>C (p.Glu10979Ala)

gnomAD frequency: 0.00001  dbSNP: rs776641064
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002476885 SCV002782110 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 2021-11-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001580053 SCV003826751 uncertain significance not provided 2019-03-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580053 SCV001809497 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001580053 SCV001925481 uncertain significance not provided no assertion criteria provided clinical testing

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