ClinVar Miner

Submissions for variant NM_001079.4(ZAP70):c.1289+10G>A

gnomAD frequency: 0.00088  dbSNP: rs200538234
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647925 SCV000769731 benign ZAP70-Related Severe Combined Immunodeficiency 2024-01-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV001329565 SCV001521038 uncertain significance Combined immunodeficiency due to ZAP70 deficiency 2019-11-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV002261156 SCV002541846 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937952 SCV004753049 likely benign ZAP70-related disorder 2024-01-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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