ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr)

gnomAD frequency: 0.00003  dbSNP: rs764388462
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727858 SCV000237216 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000464661 SCV000542930 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-17 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727858 SCV000855325 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415794 SCV002719642 likely benign Cardiovascular phenotype 2018-10-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV000727858 SCV003818527 uncertain significance not provided 2022-05-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004525888 SCV005039599 uncertain significance not specified 2024-03-11 criteria provided, single submitter clinical testing

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