ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.117C>G (p.Pro39=)

gnomAD frequency: 0.00049  dbSNP: rs148348956
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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 RCV000976666 SCV001124573 benign not provided 2024-05-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479144 SCV002800472 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-12-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000976666 SCV005243929 benign not provided criteria provided, single submitter not provided

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