ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3583_3585del (p.Ile1195del)

gnomAD frequency: 0.00019  dbSNP: rs199897550
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205505 SCV000260551 likely benign Fanconi anemia 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000605780 SCV000730672 likely benign not specified 2017-08-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000605780 SCV002070620 likely benign not specified 2020-04-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000205505 SCV002529327 likely benign Fanconi anemia 2021-12-15 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003927874 SCV004742269 benign SLX4-related disorder 2019-10-28 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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