ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19970G>T (p.Cys6657Phe)

gnomAD frequency: 0.00001  dbSNP: rs776748717
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643060 SCV000764747 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483837 SCV002784167 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 2021-08-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139982 SCV003820174 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing

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