ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2661del (p.Glu888fs)

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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 RCV001194924 SCV001364789 pathogenic Fanconi anemia, complementation group D2 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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