ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6304G>T (p.Val2102Leu)

gnomAD frequency: 0.00002  dbSNP: rs767322897
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233421 SCV000286772 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-03-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487060 SCV002784223 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 2021-08-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003137843 SCV003822942 uncertain significance not provided 2023-07-11 criteria provided, single submitter clinical testing

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