ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys)

dbSNP: rs119489101
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005756 SCV000025938 pathogenic Cutis laxa, autosomal recessive, type 1B 2006-06-01 no assertion criteria provided literature only
GeneReviews RCV000032268 SCV000055903 not provided Cutis laxa, autosomal recessive, type 1A no assertion provided literature only

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