ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33328C>T (p.Pro11110Ser)

gnomAD frequency: 0.00005  dbSNP: rs565328082
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002488469 SCV002776021 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 2021-11-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001700860 SCV003820282 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230690 SCV003928668 uncertain significance not specified 2023-04-04 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700860 SCV001921281 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700860 SCV001974445 uncertain significance not provided no assertion criteria provided clinical testing

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