ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60472G>A (p.Gly20158Ser)

dbSNP: rs375009570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234152 SCV000286758 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-03-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997436 SCV001152838 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503900 SCV002814486 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 2021-08-02 criteria provided, single submitter clinical testing

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