ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.1547-6A>G

gnomAD frequency: 0.00077  dbSNP: rs3213885
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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 RCV000890761 SCV001034532 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501462 SCV002813782 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-07-22 criteria provided, single submitter clinical testing

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