ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4686G>T (p.Pro1562=)

gnomAD frequency: 0.00003  dbSNP: rs752013105
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002064544 SCV002430245 likely benign Fanconi anemia 2021-08-12 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002064544 SCV002529365 likely benign Fanconi anemia 2021-12-25 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003965710 SCV004782441 likely benign SLX4-related disorder 2019-08-28 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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