ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3873G>A (p.Thr1291=)

gnomAD frequency: 0.00004  dbSNP: rs751302297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000873436 SCV001150765 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing
Invitae RCV002064729 SCV002439620 likely benign Fanconi anemia 2022-09-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975452 SCV004787754 likely benign SLX4-related disorder 2019-03-22 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).

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