ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2667A>G (p.Gln889=)

gnomAD frequency: 0.00066  dbSNP: rs146790631
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865806 SCV001006827 likely benign Fanconi anemia 2023-12-11 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000865806 SCV002529308 likely benign Fanconi anemia 2021-02-23 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003918374 SCV004734333 likely benign SLX4-related disorder 2023-02-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Leiden Open Variation Database RCV001194827 SCV001364632 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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