ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys)

gnomAD frequency: 0.00002  dbSNP: rs771294359
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176503 SCV000228171 uncertain significance not provided 2015-05-06 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198541 SCV001369519 likely benign Tibial muscular dystrophy 2019-07-09 criteria provided, single submitter clinical testing This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: PP3,BP1,BS2.
Mayo Clinic Laboratories, Mayo Clinic RCV000176503 SCV001715784 uncertain significance not provided 2020-07-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000176503 SCV003820204 uncertain significance not provided 2021-07-07 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000176503 SCV001923177 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000176503 SCV001962946 uncertain significance not provided no assertion criteria provided clinical testing
Genetics and Genomics Program, Sidra Medicine RCV004732744 SCV005367914 uncertain significance Catecholaminergic polymorphic ventricular tachycardia no assertion criteria provided research The c.3988C>T missense variant in TTN is present in gnomAD with an allele count of 33 and no homozygous individuals reported (PM2). ACMG codes: PM2, PP2, BP1.

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