ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.3189C>T (p.Thr1063=)

gnomAD frequency: 0.00693  dbSNP: rs78262627
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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 RCV000969166 SCV001116662 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489404 SCV002804356 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000969166 SCV005243890 benign not provided criteria provided, single submitter not provided

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