ClinVar Miner

Submissions for variant NM_000073.3(CD3G):c.439+12C>T

gnomAD frequency: 0.00007  dbSNP: rs200093444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513970 SCV000609657 uncertain significance not provided 2017-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060184 SCV002385109 likely benign Combined immunodeficiency due to CD3gamma deficiency 2023-12-03 criteria provided, single submitter clinical testing

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