ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.960A>G (p.Ala320=)

gnomAD frequency: 0.17709  dbSNP: rs41298840
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248275 SCV000317997 benign Cardiovascular phenotype 2015-06-12 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.
Eurofins Ntd Llc (ga) RCV000593555 SCV000704679 benign not specified 2016-12-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713782 SCV000844412 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520750 SCV001729931 benign DiGeorge syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000713782 SCV001944036 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000593555 SCV003928650 benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000713782 SCV005275277 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000593555 SCV001743327 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000593555 SCV001920895 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000593555 SCV001928620 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000593555 SCV001958994 benign not specified no assertion criteria provided clinical testing

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