ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.2130C>T (p.Thr710=)

gnomAD frequency: 0.00113  dbSNP: rs140116931
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000911434 SCV001056499 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505338 SCV002811249 likely benign Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 2021-08-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000911434 SCV004151346 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing FN1: BP4, BP7, BS1

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