ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1470C>T (p.Leu490=)

gnomAD frequency: 0.00031  dbSNP: rs139766312
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472164 SCV000558662 likely benign Fanconi anemia 2024-01-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000472164 SCV002529264 likely benign Fanconi anemia 2020-12-15 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316602 SCV004015508 likely benign Fanconi anemia complementation group P 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409643 SCV004144920 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing SLX4: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003970323 SCV004776580 likely benign SLX4-related disorder 2019-03-05 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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