ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52788T>A (p.Asn17596Lys)

gnomAD frequency: 0.00002  dbSNP: rs375966756
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002477890 SCV002789170 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 2021-11-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001700823 SCV004225862 uncertain significance not provided 2022-02-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700823 SCV001926122 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700823 SCV001973907 uncertain significance not provided no assertion criteria provided clinical testing

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