ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.827-19A>G

gnomAD frequency: 0.00001  dbSNP: rs199559284
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507588 SCV000603697 uncertain significance not specified 2017-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524915 SCV003478777 likely benign Congenital contractural arachnodactyly 2023-07-28 criteria provided, single submitter clinical testing

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