ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2112C>T (p.Tyr704=)

gnomAD frequency: 0.00005  dbSNP: rs566797597
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541414 SCV000626403 likely benign Fanconi anemia 2025-01-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821487 SCV002068881 likely benign not specified 2020-10-29 criteria provided, single submitter clinical testing

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