ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter)

dbSNP: rs1569083185
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000030703 SCV000053364 pathogenic Fanconi anemia complementation group B 2011-10-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV000030703 SCV000994642 pathogenic Fanconi anemia complementation group B 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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