ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1627G>A (p.Glu543Lys)

gnomAD frequency: 0.00001  dbSNP: rs377148341
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002255812 SCV002529267 uncertain significance Fanconi anemia 2021-11-12 criteria provided, single submitter curation

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