ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.204G>T (p.Ala68=)

gnomAD frequency: 0.00001  dbSNP: rs886057932
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292485 SCV000440696 uncertain significance Deafness-lymphedema-leukemia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000935383 SCV001081129 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004984840 SCV005596831 likely benign Inborn genetic diseases 2024-11-24 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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