ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15196A>G (p.Ser5066Gly)

gnomAD frequency: 0.00003  dbSNP: rs756793304
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462794 SCV000542360 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481372 SCV002786418 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 2021-07-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139605 SCV003826038 uncertain significance not provided 2020-03-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226295 SCV003923277 uncertain significance not specified 2023-03-06 criteria provided, single submitter clinical testing

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