ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.248+58A>C

gnomAD frequency: 0.61786  dbSNP: rs9470029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001194797 SCV001934664 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194797 SCV001364592 uncertain significance not provided 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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