ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)

gnomAD frequency: 0.00051  dbSNP: rs397516621
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036996 SCV000060652 uncertain significance not specified 2017-06-07 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Eurofins Ntd Llc (ga) RCV000724064 SCV000227207 uncertain significance not provided 2015-07-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086084 SCV000648392 likely benign Dilated cardiomyopathy 1DD 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000724064 SCV000729721 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770274 SCV000901706 likely benign Cardiomyopathy 2023-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345292 SCV002644843 likely benign Cardiovascular phenotype 2020-10-02 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.
PreventionGenetics, part of Exact Sciences RCV003952426 SCV004775655 likely benign RBM20-related disorder 2023-11-14 no assertion criteria provided 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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