ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.64G>A (p.Ala22Thr)

gnomAD frequency: 0.00294  dbSNP: rs139781104
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 RCV000534288 SCV000654819 benign Combined immunodeficiency due to CD3gamma deficiency 2024-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708948 SCV005234575 benign not provided criteria provided, single submitter not provided

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