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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472372 SCV000558634 likely benign Fanconi anemia 2024-01-19 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

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