ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.36G>A (p.Leu12=)

gnomAD frequency: 0.00015  dbSNP: rs181713283
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804936 SCV000944875 likely benign Combined immunodeficiency due to CD3gamma deficiency 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002067394 SCV002497180 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing

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