ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1026G>A (p.Pro342=)

gnomAD frequency: 0.00001  dbSNP: rs755211335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001816999 SCV002068453 likely benign not specified 2018-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064651 SCV002346415 likely benign Fanconi anemia 2024-11-28 criteria provided, single submitter clinical testing

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