ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4836C>T (p.Asp1612=)

gnomAD frequency: 0.00051  dbSNP: rs140844106
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466234 SCV000558653 benign Fanconi anemia 2023-11-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821335 SCV002066457 likely benign not specified 2017-07-12 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000466234 SCV002529366 likely benign Fanconi anemia 2021-06-28 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002496822 SCV002801609 likely benign Fanconi anemia complementation group P 2021-10-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424029 SCV004144889 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing SLX4: BP4, BP7

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