ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser)

gnomAD frequency: 0.00148  dbSNP: rs41298838
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000008000 SCV000625769 benign DiGeorge syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618981 SCV000735260 benign Cardiovascular phenotype 2016-01-06 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.
GeneDx RCV000828677 SCV000970374 benign not provided 2017-08-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000008000 SCV001141330 benign DiGeorge syndrome 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000008000 SCV000028205 pathogenic DiGeorge syndrome 2003-10-25 no assertion criteria provided literature only

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