ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4479G>A (p.Ser1493=)

gnomAD frequency: 0.00112  dbSNP: rs150097733
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525513 SCV000626439 benign Fanconi anemia 2024-01-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000525513 SCV002529353 likely benign Fanconi anemia 2021-12-07 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003419921 SCV004144895 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing SLX4: BP4, BP7
Genetic Services Laboratory, University of Chicago RCV003151084 SCV003840062 likely benign not specified 2022-12-14 no assertion criteria provided clinical testing

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