ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.6634A>G (p.Ile2212Val)

dbSNP: rs17449032
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001519212 SCV001728039 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001519212 SCV001874942 likely benign not provided 2023-03-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV002501819 SCV002804540 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2022-03-11 criteria provided, single submitter clinical testing

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