ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3472+9C>T

dbSNP: rs372520452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001429973 SCV001632696 likely benign Congenital contractural arachnodactyly 2020-01-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900479 SCV004716314 likely benign FBN2-related condition 2022-05-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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