ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.1860G>A (p.Pro620=)

gnomAD frequency: 0.00031  dbSNP: rs147845471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893732 SCV001037687 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487957 SCV002800967 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-11-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940747 SCV004759949 likely benign FN1-related disorder 2024-02-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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