ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.73G>A (p.Gly25Arg)

gnomAD frequency: 0.00010  dbSNP: rs201533738
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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 RCV000472372 SCV000558634 likely benign Fanconi anemia 2025-01-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821331 SCV002070649 uncertain significance not specified 2019-04-25 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000472372 SCV002529391 uncertain significance Fanconi anemia 2021-06-25 criteria provided, single submitter curation
Daryl Scott Lab, Baylor College of Medicine RCV005256613 SCV005911494 uncertain significance Fanconi anemia complementation group P 2024-04-01 criteria provided, single submitter clinical testing BP4

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