ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42672G>T (p.Leu14224=)

gnomAD frequency: 0.00004  dbSNP: rs368155350
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088633 SCV000765565 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727963 SCV000855479 uncertain significance not provided 2017-07-05 criteria provided, single submitter clinical testing
GeneDx RCV000727963 SCV000976978 likely benign not provided 2020-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397239 SCV002707406 benign Cardiovascular phenotype 2020-08-11 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000727963 SCV003819790 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing

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