ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.307+13C>T

gnomAD frequency: 0.00009  dbSNP: rs201964905
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000345972 SCV000367649 uncertain significance Immunodeficiency due to defect in CD3-gamma 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056174 SCV002480560 likely benign Combined immunodeficiency due to CD3gamma deficiency 2023-02-16 criteria provided, single submitter clinical testing

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