ClinVar Miner

Submissions for variant NM_003244.4(TGIF1):c.16+1720del

gnomAD frequency: 0.36186  dbSNP: rs11571510
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Total submissions: 5
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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 RCV000455795 SCV000540522 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 542/2178=24.88%
GeneDx RCV001573065 SCV001883013 benign not provided 2019-12-11 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000455795 SCV001743915 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573065 SCV001798390 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001573065 SCV001979223 likely benign not provided no assertion criteria provided clinical testing

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