ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val)

gnomAD frequency: 0.00015  dbSNP: rs745421287
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989488 SCV001139901 likely benign Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001501307 SCV001706114 likely benign Fanconi anemia 2021-09-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001501307 SCV002529379 likely benign Fanconi anemia 2022-02-28 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003975403 SCV004791355 likely benign SLX4-related disorder 2023-04-19 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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