ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val)

dbSNP: rs193302869
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032270 SCV000055905 not provided Cutis laxa, autosomal recessive, type 1A no assertion provided literature only
OMIM RCV000033126 SCV000056907 pathogenic Cutis laxa, autosomal recessive, type 1B 2010-08-01 no assertion criteria provided literature only

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