ClinVar Miner

Submissions for variant NM_001114636.1(FANCL):c.268del (p.Leu90fs) (rs869320684)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000191022 SCV000246000 pathogenic Fanconi anemia, complementation group L 2015-05-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV001195063 SCV001365348 pathogenic VATER association 2015-05-01 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Annalisa Vetro.

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