ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.5532A>C (p.Arg1844=)

gnomAD frequency: 0.00040  dbSNP: rs149965879
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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 RCV000899346 SCV001043606 benign not provided 2023-09-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495442 SCV002799816 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-08-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912839 SCV004736483 likely benign FN1-related disorder 2019-05-02 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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