ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2533_2536del (p.Leu845fs)

dbSNP: rs763378933
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761290 SCV000891262 pathogenic Fanconi anemia complementation group A 2018-10-03 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000761290 SCV001425825 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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