ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3420C>T (p.Cys1140=)

gnomAD frequency: 0.00001  dbSNP: rs756541654
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
CeGaT Center for Human Genetics Tuebingen RCV000584859 SCV000693186 likely benign not provided 2017-09-01 criteria provided, single submitter clinical testing
Invitae RCV002530859 SCV000754878 likely benign Congenital contractural arachnodactyly 2023-12-14 criteria provided, single submitter clinical testing

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