ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.4070-11T>C

gnomAD frequency: 0.00004  dbSNP: rs768537622
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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 RCV002087573 SCV002330406 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005017106 SCV005648523 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2024-06-04 criteria provided, single submitter clinical testing

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