ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4456A>C (p.Arg1486=)

gnomAD frequency: 0.00004  dbSNP: rs200536796
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465117 SCV000558650 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726183 SCV001961564 likely benign not provided 2021-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489116 SCV002803161 likely benign Fanconi anemia complementation group P 2021-08-09 criteria provided, single submitter clinical testing

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