ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2034T>G (p.Val678=)

gnomAD frequency: 0.00007  dbSNP: rs200278096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471141 SCV000558642 benign Fanconi anemia 2024-01-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000503119 SCV000597162 likely benign not specified 2015-10-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496821 SCV002808310 likely benign Fanconi anemia complementation group P 2022-03-15 criteria provided, single submitter clinical testing

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