ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del)

dbSNP: rs369050575
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547053 SCV000625765 benign DiGeorge syndrome 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001573413 SCV001833105 benign not provided 2019-02-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28272434)
Ambry Genetics RCV002323913 SCV002608909 likely benign Cardiovascular phenotype 2018-01-25 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 RCV001573413 SCV003827066 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573413 SCV001799265 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573413 SCV001972459 likely benign not provided no assertion criteria provided clinical testing

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