ClinVar Miner

Submissions for variant NM_003467.3(CXCR4):c.861C>T (p.Thr287=)

gnomAD frequency: 0.00016  dbSNP: rs535778934
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000924884 SCV001070410 likely benign Warts, hypogammaglobulinemia, infections, and myelokathexis 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903047 SCV004718504 likely benign CXCR4-related disorder 2019-08-05 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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