ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.15652C>T (p.Arg5218Ter)

gnomAD frequency: 0.00003  dbSNP: rs1450038140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223444 SCV002501013 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496159 SCV002787662 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 2021-10-16 criteria provided, single submitter clinical testing

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