ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly)

gnomAD frequency: 0.00001  dbSNP: rs761066631
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
Blueprint Genetics RCV000788679 SCV000927873 uncertain significance not provided 2018-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001856227 SCV002279570 likely benign Congenital contractural arachnodactyly 2022-09-13 criteria provided, single submitter clinical testing

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