ClinVar Miner

Submissions for variant NM_003467.3(CXCR4):c.219G>A (p.Thr73=)

gnomAD frequency: 0.00005  dbSNP: rs909200339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001417541 SCV001619745 likely benign Warts, hypogammaglobulinemia, infections, and myelokathexis 2022-06-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820114 SCV002068443 uncertain significance not specified 2018-02-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326571 SCV004033761 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing CXCR4: BP4, BP7

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