ClinVar Miner

Submissions for variant NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu)

dbSNP: rs1057517674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000412563 SCV000490269 pathogenic Fanconi anemia complementation group V 2018-01-25 no assertion criteria provided literature only
Leiden Open Variation Database RCV001194790 SCV001364580 pathogenic not provided 2016-10-10 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Johan den Dunnen.

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