ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.258AAG[1] (p.Arg87del)

dbSNP: rs536289991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001511781 SCV001719078 benign Fanconi anemia 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001776239 SCV002013483 uncertain significance not provided 2019-11-25 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001776239 SCV004144932 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing SLX4: BS2

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