ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.708G>A (p.Ala236=)

gnomAD frequency: 0.00003  dbSNP: rs765742613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500148 SCV000597149 uncertain significance not specified 2015-09-29 criteria provided, single submitter clinical testing
Invitae RCV001446504 SCV001649551 likely benign Fanconi anemia 2024-01-08 criteria provided, single submitter clinical testing

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