ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1538G>A (p.Trp513Ter)

gnomAD frequency: 0.00001  dbSNP: rs761314760
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leiden Open Variation Database RCV001194872 SCV001364711 pathogenic Fanconi anemia complementation group P 2014-10-11 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Beatrice Schuster.

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