ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.1425G>C (p.Gly475=)

gnomAD frequency: 0.01019  dbSNP: rs59884263
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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 RCV000946675 SCV001092822 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000946675 SCV002039047 likely benign not provided 2021-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502904 SCV002811885 benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000946675 SCV005258354 likely benign not provided criteria provided, single submitter not provided

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