ClinVar Miner

Submissions for variant NM_003467.3(CXCR4):c.414C>T (p.Ile138=)

gnomAD frequency: 0.03364  dbSNP: rs2228014
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254216 SCV000309589 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000535716 SCV000634736 benign Warts, hypogammaglobulinemia, infections, and myelokathexis 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001530628 SCV001745514 benign not provided 2020-10-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19473177, 31177127)
Breakthrough Genomics, Breakthrough Genomics RCV001530628 SCV005245355 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000254216 SCV001798082 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000254216 SCV001951519 benign not specified no assertion criteria provided clinical testing

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