ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1764C>T (p.His588=)

gnomAD frequency: 0.00004  dbSNP: rs201638593
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870326 SCV001011818 likely benign Fanconi anemia 2024-09-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501301 SCV002813042 likely benign Fanconi anemia complementation group P 2022-03-19 criteria provided, single submitter clinical testing

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