ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.1466-6C>T

gnomAD frequency: 0.00549  dbSNP: rs151062338
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000896919 SCV001041032 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000896919 SCV004146523 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing FBN3: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003922885 SCV004740415 benign FBN3-related disorder 2019-04-12 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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