ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8193-6A>G

gnomAD frequency: 0.00010  dbSNP: rs371741283
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
GeneDx RCV001704733 SCV000715447 likely benign not provided 2019-12-20 criteria provided, single submitter clinical testing
Invitae RCV001430849 SCV001633594 likely benign Congenital contractural arachnodactyly 2023-04-29 criteria provided, single submitter clinical testing

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