ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.1143C>T (p.Asp381=)

gnomAD frequency: 0.00022  dbSNP: rs200307732
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000921575 SCV001066985 benign not provided 2024-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502798 SCV002810042 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2022-04-15 criteria provided, single submitter clinical testing

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