ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.4222+10C>A

gnomAD frequency: 0.00004  dbSNP: rs376700480
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827752 SCV000969412 likely benign not provided 2018-03-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001078599 SCV001098235 likely benign Congenital contractural arachnodactyly 2021-06-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279553 SCV002565921 uncertain significance Ehlers-Danlos syndrome 2020-02-01 criteria provided, single submitter clinical testing

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