ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6468A>G (p.Pro2156=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002727064 SCV003002058 likely benign Congenital contractural arachnodactyly 2023-05-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898500 SCV004714793 likely benign FBN2-related disorder 2020-12-22 no assertion criteria provided 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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