ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.5511T>C (p.Asn1837=)

gnomAD frequency: 0.00002  dbSNP: rs760293471
Minimum review status: Collection method:
Minimum conflict level:
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 RCV002173829 SCV002428479 likely benign not provided 2022-06-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500105 SCV002810843 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-12-29 criteria provided, single submitter clinical testing

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