ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2241C>T (p.Ala747=)

gnomAD frequency: 0.00011  dbSNP: rs143790956
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822515 SCV002065241 likely benign not specified 2021-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077315 SCV002479025 likely benign Fanconi anemia 2023-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503322 SCV002807403 likely benign Fanconi anemia complementation group P 2021-07-22 criteria provided, single submitter clinical testing

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