ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.6923T>C (p.Val2308Ala)

gnomAD frequency: 0.00120  dbSNP: rs545761792
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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 RCV001513051 SCV001720584 benign not provided 2023-08-19 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001732195 SCV001984717 benign Glomerulopathy with fibronectin deposits 2 2020-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488320 SCV002797411 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-08-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001513051 SCV004151339 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing FN1: BP4, BS2

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