ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14624C>G (p.Ala4875Gly)

gnomAD frequency: 0.00002  dbSNP: rs369989679
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459451 SCV000542932 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-08-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489010 SCV002779533 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 2022-03-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139636 SCV003826587 uncertain significance not provided 2020-06-26 criteria provided, single submitter clinical testing

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