ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48143T>C (p.Ile16048Thr)

gnomAD frequency: 0.00001  dbSNP: rs749678590
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082188 SCV000555319 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000602940 SCV000730975 likely benign not specified 2017-08-04 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.
Athena Diagnostics Inc RCV000714042 SCV000844705 likely benign not provided 2018-05-25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000714042 SCV001715768 uncertain significance not provided 2020-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418442 SCV002730313 likely benign Cardiovascular phenotype 2019-05-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity Omics RCV000714042 SCV003826741 uncertain significance not provided 2022-09-21 criteria provided, single submitter clinical testing

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