ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4637-17T>G

gnomAD frequency: 0.00004  dbSNP: rs112687420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237486 SCV002009335 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Invitae RCV002074050 SCV002472076 likely benign Fanconi anemia 2023-11-15 criteria provided, single submitter clinical testing

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