ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1434C>T (p.Ala478=)

gnomAD frequency: 0.00002  dbSNP: rs755786214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633646 SCV000754898 likely benign Congenital contractural arachnodactyly 2023-08-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330851 SCV004038938 likely benign not specified 2023-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892432 SCV004710529 likely benign FBN2-related condition 2022-01-12 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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