ClinVar Miner

Submissions for variant NM_001079.4(ZAP70):c.474C>T (p.His158=)

dbSNP: rs56404668
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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 RCV000889539 SCV001033232 benign ZAP70-Related Severe Combined Immunodeficiency 2024-12-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001141989 SCV001302382 likely benign Combined immunodeficiency due to ZAP70 deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001269100 SCV001448341 benign not specified 2020-11-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711374 SCV005259893 likely benign not provided criteria provided, single submitter not provided

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