ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met)

gnomAD frequency: 0.00003  dbSNP: rs72648936
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000321332 SCV000333018 uncertain significance not provided 2015-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000537162 SCV000642721 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765585 SCV000896900 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 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000321332 SCV000971411 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mayo Clinic Laboratories, Mayo Clinic RCV000321332 SCV002541979 uncertain significance not provided 2021-11-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000321332 SCV003824760 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing

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