ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2990-8C>T

gnomAD frequency: 0.00002  dbSNP: rs370825177
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697551 SCV000719768 likely benign not provided 2019-04-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV003525920 SCV004285377 likely benign Congenital contractural arachnodactyly 2023-07-20 criteria provided, single submitter clinical testing

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