ClinVar Miner

Submissions for variant NM_015247.2(CYLD):c.2240A>G (p.Glu747Gly) (rs121908389)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005571 SCV000025753 pathogenic Familial multiple trichoepitheliomata 2003-10-01 no assertion criteria provided literature only
OMIM RCV000005572 SCV000025754 pathogenic Spiegler-Brooke syndrome 2003-10-01 no assertion criteria provided literature only

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