ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2428+9T>C

gnomAD frequency: 0.00001  dbSNP: rs368374358
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001813161 SCV001474025 likely benign not provided 2020-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001398748 SCV001600523 likely benign Congenital contractural arachnodactyly 2023-09-25 criteria provided, single submitter clinical testing

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