ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.1002G>A (p.Thr334=)

gnomAD frequency: 0.00094  dbSNP: rs138271073
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002136702 SCV002409654 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494287 SCV002808061 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002136702 SCV004151349 benign not provided 2022-09-01 criteria provided, single submitter clinical testing FN1: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003923662 SCV004737793 likely benign FN1-related disorder 2019-09-19 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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