ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr)

dbSNP: rs193302866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023384 SCV000044675 pathogenic Cutis laxa, autosomal recessive, type 1B 2010-08-01 no assertion criteria provided literature only
GeneReviews RCV000032274 SCV000055909 not provided Cutis laxa, autosomal recessive, type 1A no assertion provided literature only

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