ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.123T>C (p.Pro41=)

gnomAD frequency: 0.00001  dbSNP: rs1022734850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872857 SCV001014740 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-04-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004569804 SCV005051177 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing GATA2: BP4, BP7
Ambry Genetics RCV004973112 SCV005596891 likely benign Inborn genetic diseases 2024-11-26 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.

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