ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1367-2A>G

dbSNP: rs2040679706
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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 RCV001194849 SCV001364679 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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