ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.1626C>T (p.Asn542=)

gnomAD frequency: 0.00080  dbSNP: rs138144264
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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 RCV000930102 SCV001075745 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505381 SCV002807114 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-07-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000930102 SCV004151348 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing FN1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004746165 SCV005350630 likely benign FN1-related disorder 2024-03-11 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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