ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4410G>A (p.Pro1470=)

gnomAD frequency: 0.00001  dbSNP: rs1555449966
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038273 SCV001201737 likely benign Fanconi anemia 2022-12-20 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194855 SCV001364688 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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