ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.4143C>T (p.Pro1381=)

gnomAD frequency: 0.00002  dbSNP: rs767010734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002204691 SCV002360779 likely benign not provided 2021-06-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498212 SCV002807698 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-11-18 criteria provided, single submitter clinical testing

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