ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4346-2A>T

dbSNP: rs587776518
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
OMIM RCV000000551 SCV000020700 pathogenic Congenital contractural arachnodactyly 1996-11-01 no assertion criteria provided literature only
GeneReviews RCV000000551 SCV001156237 not provided Congenital contractural arachnodactyly no assertion provided literature only

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