ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr)

gnomAD frequency: 0.00003  dbSNP: rs756689649
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232846 SCV000286709 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2015-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997455 SCV001152881 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494639 SCV002812796 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 2021-09-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000997455 SCV003821185 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing

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