ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86701C>T (p.Arg28901Cys)

gnomAD frequency: 0.00002  dbSNP: rs757848764
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518033 SCV000616165 uncertain significance not specified 2017-06-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261097 SCV002541925 uncertain significance not provided 2022-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506262 SCV002814552 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 RCV002261097 SCV003823650 uncertain significance not provided 2019-07-08 criteria provided, single submitter clinical testing

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