ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66576C>T (p.Leu22192=)

gnomAD frequency: 0.00054  dbSNP: rs187378247
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642855 SCV000764542 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997419 SCV001152799 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
GeneDx RCV000997419 SCV001822535 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369694 SCV002624322 likely benign Cardiovascular phenotype 2019-11-01 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.
PreventionGenetics, part of Exact Sciences RCV003945622 SCV004761713 likely benign TTN-related condition 2019-10-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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