ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.2713+20A>G

gnomAD frequency: 0.00027  dbSNP: rs368435928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002209177 SCV002354319 likely benign not provided 2024-11-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486824 SCV002803509 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-12-23 criteria provided, single submitter clinical testing

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