ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2166C>T (p.Asn722=)

gnomAD frequency: 0.00001  dbSNP: rs767528538
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 RCV002178431 SCV002474591 likely benign Fanconi anemia 2023-12-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002178431 SCV002529289 likely benign Fanconi anemia 2020-10-13 criteria provided, single submitter curation

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