ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.2714-11_2714-10del

gnomAD frequency: 0.00017  dbSNP: rs371418810
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001513052 SCV001720585 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001513052 SCV002015386 likely benign not provided 2020-12-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501773 SCV002803778 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-10-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940908 SCV004753418 benign FN1-related disorder 2023-12-04 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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