ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8364+7A>G

dbSNP: rs185052980
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001471914 SCV001676037 likely benign Congenital contractural arachnodactyly 2025-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001712906 SCV001939512 benign not provided 2016-07-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276743 SCV002565983 uncertain significance Ehlers-Danlos syndrome 2022-07-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276744 SCV002566608 uncertain significance Connective tissue disorder 2022-02-10 criteria provided, single submitter clinical testing

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